LOVD - Variant listings for PORCN

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+/+ - deletion r.(?) deletion PORCN and EBP +? - Deletion - PORCN_00115 ? (unknown) not documented Patrizi et al. 2012 DNA MAPH FDH Patrizi et al. 2012, M.P.L. case report - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, Yes, Hyperpigmentation, Yes, Fat herniation , Yes, Papilloma periorally, No, Papilloma elsewhere, Yes Syndactyly, Yes, Scoliosis, No, Polydactyly, No, Asymmetrical skeletal defects, Yes, Ectrodactyly, No, Oligodactyly, Yes Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, No ND Significantly decreased vision , ND, Microophtalmia, No, Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND, Displaced anus, ND ND Osteopathia striata, Yes, Omphalocele, ND, Occipitofrontal circumference lt P3-P10, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, No, Hypohidrosis, ND, Height lt P3-P10, No, Caudal appendage, ND, Acral abnormalities, ND, IUGR, ND basal cell carcinomas 2 Italian caucasian
+/+ - Deletion ex 1-4 r.(?) del PORCN - deletion - PORCN_00064 sporadic 83/17 Bornholdt et al. 2009 DNA array CGH/MAPH FDH/GGS Bornholdt et al. 2009 GG26 - F Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes, Papilloma periorally, Yes, Papilloma elsewhere, Yes Syndactyly, Yes, Asymmetrical skeletal defects, Yes yes ND ND ND ND ND ND yes, dental defects 1 unknown unknown
+/+ - Deletion ex 1-8 r.(?) del PORCN - Deletion mosaic PORCN_00119 ? (unknown) unknown Sellars et al. 2013 DNA arrayCGH - Sellars et al. 2013, M.P.L. case 1 mosaic Female Nail dysplasia, Yes, Skin hypoplasia, Yes Syndactyly, No, Polydactyly, No, Ectrodactyly, No Oligodontia, Yes ND Coloboma, No ND Hydronephrosis, No, Displaced anus, No ND Osteopathia striata, No, Omphalocele, No mild asymmetry of of ears, mildly short palpebral fissures 1 USA unknown
+/+ - Deletion ex 1-8 r.(?) del PORCN - Deletion fetus of case 1, prenatal diagnosis by ultrasound analysis and array CGH PORCN_00119 familial unknown Sellars et al. 2013 DNA arrayCGH - Sellars et al. 2013, M.P.L. case 2 Prenatal diagnosis of Goltz-Gorlin Syndrome at 11 3/7 weeks by first trimester ultrasound analysis Female Skin hypoplasia, ND Oligodactyly, No Oligodontia, ND ND Microophtalmia, ND ND Kidney malformation, Yes, Heart defects , Yes ND Osteopathia striata, ND absent L arm and L leg, asymmetric ventriculomegaly, absent corpus callosum,typeII Chiari malformation, , cleft lip/palate, open neural tube defect, ventricular wall defect, stomach absent 1 USA unknown
+/+ - Microdeletion 1 r.(?) del PORCN - deletion - PORCN_00065 sporadic 98/2 Bornholdt et al. 2009 DNA array CGH/MAPH FDH/GGS Bornholdt et al. 2009 GG25 - F Nail dysplasia, Yes, Skin hypoplasia, Yes Asymmetrical skeletal defects, Yes, Oligodactyly, Yes, yes ND ND ND ND ND ND ND - 1 unknown unknown
+/+ - Microdeletion 2 r.(?) del PORCN - deletion - PORCN_00066 sporadic 100/0 Bornholdt et al. 2009 DNA MAPH FDH/GGS Bornholdt et al. 2009 GG36 - F Nail dysplasia, Yes, Skin hypoplasia, Yes Asymmetrical skeletal defects, Yes, Oligodactyly, Yes ND ND ND ND ND ND Mammary hypoplasia in adults, Yes - 1 unknown unknown
+/+ - Microdeletion 3 r.(?) del PORCN - deletion - PORCN_00067 Familial 100/0 Bornholdt et al. 2009 DNA MAPH FDH/GGS Bornholdt et al. 2009 GG37 - F Skin hypoplasia, Yes Oligodactyly, Yes ND ND yes ND ND ND Omphalocele, Yes - 1 unknown unknown
+/+ - ~219 kb deletion r.(?) del PORCN - deletion mother and sister affected by history PORCN_00071 unknown 100/0 Wang et al. 2007 DNA qPCR,arrayCGH, FISH FDH/GGS Wang et al. 2007, M.P.L. G43 - F Skin hypoplasia, Yes, Fat herniation , Yes Syndactyly, No, Ectrodactyly, Yes ND ND ND ND ND ND Osteopathia striata, ND Blashkolinear pigmentation 1 unknown unknown
+/+ - 112 kb del r.(?) del PORCN - Deletion phenotype is angioma serpiginosum PORCN_00075 familial 100/0 Houge, 2008 DNA arrayCGH - Houge, 2008, M.P.L. Norway - Female Patchy alopecia, No, Nail dysplasia, ND, Skin hypoplasia, No, Hyperpigmentation, No, Fat herniation , No, Papilloma elsewhere, Yes Syndactyly, No, Scoliosis, Yes, Polydactyly, No, Asymmetrical skeletal defects, No, Ectrodactyly, No, Oligodactyly, No Oligodontia, No, Enamel hypoplasia, No, Cleft lip/palate, No No Significantly decreased vision , No, Microophtalmia, No, Coloboma, No, Tear duct obstruction, No No Kidney malformation, No, Hydronephrosis, No, Heart defects , No, Displaced anus, No No Osteopathia striata, No, Omphalocele, No, Occipitofrontal circumference lt P3-P10, No, Nipple hypoplasia in adults, No, Mammary hypoplasia in adults, No, Hypohidrosis, No, Height lt P3-P10, No, Caudal appendage, No, IUGR, No vascular streaks along Blascko's lines, esophageal papillomas 1 Norway Caucasian
+/+ - 137.411 bp deletion r.(?) del SLC38A5, FTSJ1, PORCN,EBP and OATL1 - deletion - PORCN_00068 Familial 95/5 Grzeschik et al. 2007 DNA array CGH/MAPH FDH/GGS Grzeschik et al. 2007 GG1 - F Nail dysplasia, Yes, Skin hypoplasia, Yes ND ND ND ND ND ND ND Mammary hypoplasia in adults, Yes non documented 1 unknown unknown
+/+ - 150 kb del r.(?) del PORCN - deletion - PORCN_00073 de novo non informative Froyen et al. 2009 DNA array CGH - Froyen et al. 2009 FIN2 - F Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes, Fat herniation , Yes, Papilloma periorally, Yes, Papilloma elsewhere, Yes Syndactyly, Yes, Ectrodactyly, No yes ND Microophtalmia, No, Coloboma, No ND ND No ND dental anomalies 1 Finland caucasian
+/+ - 219 kb deletion r.(?) del PORCN - deletion - PORCN_00072 de novo 100/0 Wang et al. 2007 DNA arrayCGH,FISH,qPCR FDH/GGS Wang et al. 2007 G17 - F Patchy alopecia, No, Nail dysplasia, Yes, Skin hypoplasia, Yes, Fat herniation , Yes, Papilloma periorally, No, Papilloma elsewhere, No Syndactyly, Yes, Ectrodactyly, Yes Oligodontia, No ND Microophtalmia, No, Coloboma, No no ND No ND Blashkolinear pigmentation,yes 1 unknown unknown
+/+ - 364.864 bp deletion r.(?) del SLC38A5, FTSJ1, PORCN,EBP - deletion - PORCN_00069 Familial 99/1 Grzeschik et al. 2007 DNA array CGH/MAPH FDH/GGS Grzeschik et al. 2007 GG2 - F Nail dysplasia, Yes, Skin hypoplasia, Yes Asymmetrical skeletal defects, Yes ND ND ND ND ND ND ND non documented 1 unknown unknown
+/+ - 377.520 bp deletion r.(?) del PORCN - deletion - PORCN_00070 Familial 97/3 Grzeschik et al. 2007 DNA array CGH/MAPH FDH/GGS Grzeschik et al. 2007 GG11 - F Nail dysplasia, Yes, Skin hypoplasia, Yes Asymmetrical skeletal defects, Yes ND ND ND ND Heart defects , Yes ND ND tetralogy of Fallot 1 unknown unknown
+?/+? - 502 kb deletion r.(?) del PORCN +? - Deletion mutation inherited from mildly affected mother PORCN_00078 familial 99/1 Lombardi et al, 2011 DNA arrayCGH - Lombardi et al, 2011, M.P.L. AMC_11 born, 28-08-2005, referred by J van der Smagt Female Nail dysplasia, Yes, Skin hypoplasia, Yes, Papilloma periorally, No, Papilloma elsewhere, No Syndactyly, No, Ectrodactyly, No, Oligodactyly, No Oligodontia, No, Cleft lip/palate, No Yes Microophtalmia, No, Coloboma, No No Heart defects , No No Caudal appendage, No mild phenotype 1 - -
+/+ 02 c.1A>G r.(?) p.Met1? - missense - PORCN_00001 de novo not available Lombardi et al, 2011 DNA SEQ FDH/GGS Lombardi et al, 2011 AMC_1 - F Nail dysplasia, No, Skin hypoplasia, Yes, Papilloma periorally, No, Papilloma elsewhere, No Syndactyly, Yes, Ectrodactyly, No, Oligodactyly, No Oligodontia, No, Cleft lip/palate, No Yes Microophtalmia, No, Coloboma, No Yes ND No ND ND 1 the Netherlands Caucasian
+/+ 02 c.3G>A r.(?) p.Met1? p.Met1Ile missense - PORCN_00002 sporadic 79/21 Bornholdt et al. 2009 DNA SEQ FDH/GGS Bornholdt et al. 2009 GG23 - F Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes, Papilloma periorally, Yes, Papilloma elsewhere, Yes Syndactyly, Yes, Asymmetrical skeletal defects, Yes yes ND ND yes ND yes ND yes, dental defects 1 unknown unknown
+/+ 02 c.49dupT r.(?) p.Cys17LeufsX11 - frameshift - PORCN_00003 de novo 54/46 Harmsen et al. 2009 DNA SEQ FDH/GGS Harmsen et al. 2009 FDH10 - F Patchy alopecia, No, Nail dysplasia, Yes, Skin hypoplasia, Yes, Hyperpigmentation, No, Fat herniation , No Syndactyly, Yes, Ectrodactyly, Yes Oligodontia, No, Cleft lip/palate, No Yes Significantly decreased vision, Yes, Microophtalmia, Yes, Coloboma, Yes yes Kidney malformation, Yes yes IUGR, Yes camptodactyly, R preauricular appendage, umbilical hernia, low set ears, aniridia, glaucoma, thorax deformation, gastro esophageal reflux, large clitoris, hypoplastic labia 1 unknown unknown
+/+ 02 c.53dupT r.(?) p.Leu19ProfsX9 p.Leu18LeufsX10 frameshift - PORCN_00004 de novo 50/50 Wang et al. 2007 DNA SEQ FDH/GGS Wang et al. 2007 G31-F - F Skin hypoplasia, Yes, Fat herniation , Yes Syndactyly, Yes, Ectrodactyly, Yes ND ND ND yes ND ND ND developmental delay, yes 1 unknown unknown
+/+ 02 c.74delG r.(?) p.Gly25AlafsX27 - frameshift - PORCN_00005 unknown (adopted) 66.6/33.4 Clements et al. 2009 DNA SEQ FDH/GGS Clements et al. 2009 Proband 2 - F Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes Syndactyly, Yes, Ectrodactyly, Yes Oligodontia, Yes ND ND ND ND ND Hypohidrosis, Yes, ND yes, lower limb hypoplasia, osteoporosis, ostheoarthritis, hearing loss, strabismus, giant cell tumour of bone 1 UK Caucasian
+/+ 02 c.108C>A r.(?) p.C36X - Substitution - PORCN_00082 ? (unknown) not available Fernandes et al, 2010 DNA SEQ - Fernandes et al, 2010, Netherlands:Amsterdam Pt 1 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND Syndactyly, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND, Displaced anus, ND ND Osteopathia striata, ND, Omphalocele, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Caudal appendage, ND non documented 1 unknown unknown
+/+ 02 c.129G>A r.(?) p.Trp43X - Substitution truncation, detected in blood PORCN_00099 de novo, somatic mosaicism - Yoshihashi et al. 2010 DNA SEQ FDH Yoshihashi et al. 2010, Netherlands:Amsterdam case report mosaic Male Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes, Fat herniation , No Syndactyly, Yes Oligodontia, ND, Enamel hypoplasia, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND ND Hydronephrosis, Yes No Osteopathia striata, ND - 1 Japan Japanese
+?/+? 02 c.129G>A r.(?) p.Trp43X - Substitution truncation, detected in blood PORCN_00099 ? (unknown) - Nakanishi et al. 2013 DNA SEQ - Nakanishi et al. 2013, M.P.L. case 1 typical cutaneous symptoms and skeletal abnomalities Female Skin hypoplasia, Yes Syndactyly, ND Oligodontia, ND ND Microophtalmia, ND ND Heart defects, ND, Displaced anus, ND ND Osteopathia striata, ND, Omphalocele, ND, Nipple hypoplasia in adults, ND - 1 Japan Japan
+/+ 02i c.136+1G>A r.(?) p.? IVS2+1G>A Substitution splicing defect PORCN_00098 ? (unknown) not available Kapoor et al. 2012 DNA SEQ FDH Kapoor et al. 2012, Netherlands:Amsterdam case report 11 y old girl Female Nail dysplasia, Yes, Skin hypoplasia, Yes, Hyperpigmentation, Yes Syndactyly, Yes, Scoliosis, Yes, Ectrodactyly, Yes Oligodontia, Yes ND Significantly decreased vision, Yes, Coloboma, Yes Yes Kidney malformation, ND, Heart defects, ND Yes Osteopathia striata, ND, Omphalocele, ND - 1 India Indian
+/+ 02i c.136+2delT r.(?) p.? - Substitution splicing defect PORCN_00083 ? (unknown) not available Fernandes et al, 2010 DNA SEQ - Fernandes et al, 2010, Netherlands:Amsterdam Pt 2 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Fat herniation , ND, Papilloma periorally, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Ectrodactyly, ND, Oligodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND, Displaced anus, ND ND Osteopathia striata, ND, Omphalocele, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Caudal appendage, ND not documented 1 unknown unknown
+?/+? 02i c.137-3A>G r.(?) p.? - Substitution splicing defect predicted with in silico analysis PORCN_00105 ? (unknown) not available unpublished DNA SEQ FDH unpublished, Poland:Wroclaw AMC_16 - Female Patchy alopecia, No, Nail dysplasia, Yes, Skin hypoplasia, Yes, Hyperpigmentation, No, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, Yes, Scoliosis, No, Polydactyly, Yes, Asymmetrical skeletal defects, Yes, Ectrodactyly, Yes, Oligodactyly, Yes Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate,Yes Yes Significantly decreased vision , No, Microophtalmia, No, Coloboma, No, Tear duct obstruction, Yes Yes Kidney malformation, No, Hydronephrosis, Yes, Heart defects , No, Displaced anus, Yes ND Osteopathia striata, ND, Omphalocele, Yes, Occipitofrontal circumference lt P3-P10, No, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Height lt P3-P10, ND, Caudal appendage, No, Acral abnormalities, Yes, IUGR, No not documented 1 Poland Caucasian
+/+ 03 c.166_167dup r.(?) p.Val57ProfsX60 - frameshift - PORCN_00006 unknown 83/17 Harmsen et al. 2009 DNA SEQ FDH/GGS Harmsen et al. 2009 FDH3a mother of FDH3b F Patchy alopecia, No, Nail dysplasia, No, Skin hypoplasia, Yes, Hyperpigmentation, No, Fat herniation , No Syndactyly, No Oligodontia, No, Cleft lip/palate, No ND Microophtalmia, No, Coloboma, No no ND ND Omphalocele, No, IUGR, No yes, short stature, one abortion, due to limb defects, 5 spontaneous 1 unknown unknown
+/+ 03 c.166_167dup r.(?) p.Val57ProfsX60 - frameshift mother to daughter transmission PORCN_00006 familial 80/20 Harmsen et al. 2009 DNA SEQ FDH/GGS Harmsen et al. 2009 FDH3b daughter of FDH3a F Patchy alopecia, No, Nail dysplasia, No, Skin hypoplasia, Yes, Hyperpigmentation, Yes, Fat herniation , No Syndactyly, Yes, Polydactyly, Yes Oligodontia, No, Cleft lip/palate,Yes Yes Microophtalmia, No, Coloboma, No yes Heart defects , Yes ND Omphalocele, No, IUGR, No yes, hypoplastic R thumb, rudimentary preaxial polydactyly R, preauricular appendages, hypoplastic labia 1 unknown unknown
+/+ 03 c.178G>A r.(?) p.Gly60Arg - missense - PORCN_00007 mother low level mosaicism 63/37 Wang et al. 2007 DNA SEQ FDH/GGS Wang et al. 2007 G7-F - F Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes, Fat herniation , Yes Syndactyly, Yes ND ND Significantly decreased vision, Yes, Microophtalmia, Yes ND ND ND ND non documented 1 unknown unknown
+/+ 03 c.178G>A r.(?) p.Gly60Arg - missense - PORCN_00007 de novo 50/50 Wang et al. 2007 DNA SEQ FDH/GGS Wang et al. 2007 G27-F - F Nail dysplasia, Yes, Skin hypoplasia, Yes, Fat herniation , Yes, Papilloma elsewhere, Yes Syndactyly, Yes ND ND Microophtalmia, Yes, Coloboma, Yes ND ND Yes ND - 1 unknown unknown
+/+ 03 c.178G>A r.(?) p.Gly60Arg - missense - PORCN_00007 ? (unknown) not available Fernandes et al, 2010 DNA SEQ - Fernandes et al, 2010 Pt 3 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND, Displaced anus, ND ND Osteopathia striata, ND, Omphalocele, ND, Occipitofrontal circumference lt P3-P10, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Caudal appendage, ND, Acral abnormalities, ND not documented 1 unknown unknown
+/+ 03 c.178G>A r.(?) p.Gly60Arg - missense - PORCN_00007 ? (unknown) not available Fernandes et al. 2010 DNA SEQ - Fernandes et al. 2010 Pt 4 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Cleft lip/palate, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND ND Hydronephrosis, ND, Heart defects, ND, Displaced anus, ND ND Omphalocele, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Caudal appendage, ND, Acral abnormalities, ND not documented 1 unknown unknown
+/+ 03 c.178G>A
    + c.720-28C>T
r.(?) p.Gly60Arg - missense - PORCN_00007 ? (unknown) not available Fernandes et al. 2010 DNA SEQ - - Pt 5 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND ND Osteopathia striata, ND, Omphalocele, ND, Occipitofrontal circumference lt P3-P10, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Caudal appendage, ND not documented 1 unknown unknown
+/+ 03 c.178G>A r.(?) p.Gly60Arg - missense - PORCN_00007 de novo, in patient not available unpublished DNA SEQ FDH unpublished, Netherlands:Amsterdam AMC_19 - Female Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes, Hyperpigmentation, Yes, Fat herniation , Yes, Papilloma periorally, Yes, Papilloma elsewhere, ND Syndactyly, Yes, Scoliosis, Yes, Polydactyly, No, Asymmetrical skeletal defects, Yes, Ectrodactyly, No, Oligodactyly, Yes Oligodontia, Yes, Enamel hypoplasia, No, Cleft lip/palate, No No Significantly decreased vision , No, Microophtalmia, No, Coloboma, No, Tear duct obstruction, Yes ND Kidney malformation, No, Hydronephrosis, Yes, Heart defects , No, Displaced anus, No ND Osteopathia striata, Yes, Omphalocele, No, Occipitofrontal circumference lt P3-P10, Yes, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, Yes, Hypohidrosis, No, Height lt P3-P10, No, Caudal appendage, No, Acra abnormalities, No, IUGR, No bifid uvula 1 Italian Caucasian
+/+ 03 c.178G>A r.(?) p.Gly60Arg - missense detected in blood PORCN_00007 ? (unknown) - unpublished DNA SEQ FDH unpublished AMC_24 mosaic Male Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND ND Osteopathia striata, ND, Omphalocele, ND, Occipitofrontal circumference lt P3-P10, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Height lt P3-P10, ND, Caudal appendage, ND, Acral abnormalities, ND - 1 the Netherlands unknown
+/+ 03 c.221G>A r.(?) p.Trp74X - nonsense - PORCN_00008 de novo 76/24 Harmsen et al. 2009 DNA SEQ FDH/GGS Harmsen et al. 2009 FDH6 - F Patchy alopecia, No, Nail dysplasia, Yes, Skin hypoplasia, Yes, Hyperpigmentation, Yes, Fat herniation , Yes, Papilloma periorally, Yes Syndactyly, No Oligodontia, Yes, Cleft lip/palate, No yes Significantly decreased vision, Yes, Microophtalmia, No, Coloboma, No, Tear duct obstruction, Yes yes Heart defects , Yes Yes Omphalocele, Yes, IUGR, No yes, clino-campodactyly R 5th finger, dental defects, strabismus, hypermetropia, asymmetric face, bulbous nasal tip, dorsal lymphedema of feet in infancy, single transverse crease on R palm 1 unknown unknown
+/+ 03 c.222G>A r.(?) p.Trp74X - nonsense - PORCN_00009 sporadic 65/35 Grzeschik et al. 2007 DNA SEQ FDH/GGS Grzeschik et al. 2007 GG3 - F Nail dysplasia, Yes, Skin hypoplasia, Yes, Papilloma elsewhere, Yes Syndactyly, Yes, Asymmetrical skeletal defects, Yes yes ND ND ND ND ND Osteopathia striata, Yes, yes yes, dental defects, esophageal papillomas 1 unknown unknown
+/+ 03 c.268C>T r.(?) p.Arg90X - nonsense - PORCN_00010 unknown 81/19 Wang et al. 2007 DNA SEQ FDH/GGS Wang et al. 2007 G201-F - F Patchy alopecia, Yes, Skin hypoplasia, Yes Ectrodactyly, Yes ND ND Microophtalmia, Yes yes ND Yes ND yes, Blashkolinear pigmentation, costovertebral dyssegmentation, diastasis pubis 1 unknown unknown
+/+ 03 c.268C>T r.(?) p.Arg90X - nonsense postzygotic mosaic PORCN_00010 sporadic 60/40 Bornholdt et al. 2009 DNA SEQ FDH/GGS Bornholdt et al. 2009 GG21 - F Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes, Papilloma periorally, Yes, Papilloma elsewhere, Yes Syndactyly, Yes, Asymmetrical skeletal defects, Yes yes ND ND ND ND ND ND yes, dental defects 1 unknown unknown
+/+ 03 c.268C>T r.(?) p.Arg90X - nonsense mosaic PORCN_00010 de novo 37/63 Harmsen et al. 2009 DNA SEQ FDH/GGS Harmsen et al. 2009 FDH4 - F Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes, Hyperpigmentation, Yes, Fat herniation , No Syndactyly, Yes Oligodontia, No, Cleft lip/palate, No Yes Microophtalmia, Yes, Coloboma, Yes yes Heart defects , No ND Omphalocele, Yes, IUGR, No coloboma iris and choroidea 1 unknown unknown
+?/+? 03 c.268C>T r.(?) p.Arg90X - nonsense - PORCN_00010 unknown not available not published DNA SEQ - not published, M.P.L. AMC_34 - Female Patchy alopecia, ND, Nail dysplasia, ND, Hyperpigmentation, ND Syndactyly, ND, Scoliosis, ND, Asymmetrical skeletal defects, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Microophtalmia, ND, Coloboma, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND ND Osteopathia striata, ND, Omphalocele, ND not documented 1 United Kingdom unknown
+/+ 03 c.283C>T r.(?) p.Arg95X - nonsense - PORCN_00011 sporadic 55/45 Bornholdt et al. 2009 DNA SEQ FDH/GGS Bornholdt et al. 2009 GG13 - F Skin hypoplasia, Yes Oligodactyly, Yes yes ND ND yes ND ND ND yes, dental defects, clinodactily 1 unknown unknown
+/+ 03 c.283C>T r.(?) p.Arg95X - nonsense - PORCN_00011 de novo not available Maas et al. 2009 DNA SEQ FDH/GGS Maas et al. 2009 1 - F Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes, Papilloma periorally, Yes, Papilloma elsewhere, No Syndactyly, Yes, Polydactyly, Yes Oligodontia, Yes, Enamel hypoplasia, Yes, Cleft lip/palate,Yes yes Significantly decreased vision, Yes, Microophtalmia, No, Coloboma, No, Tear duct obstruction, No Yes Heart defects , Yes, Displaced anus, Yes ND Nipple hypoplasia in adults, No, Mammary hypoplasia in adults, No, Caudal appendage, Yes, Acral abnormalities, Yes, Occipitofrontal circumference less than P3-P10, Yes, Height less than P3-P10, Yes yes, hyperhidrosis, bicuspid aortic valve, renal reflux 1 the Netherlands Caucasian
+/+ 03 c.283C>T r.(?) p.Arg95X - nonsense mosaic PORCN_00011 ? (unknown) unknown Fernandes et al, 2010 DNA SEQ - Fernandes et al, 2010 Pt 6 mosaic Male Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND ND Osteopathia striata, ND, Omphalocele, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Caudal appendage, ND, Acral abnormalities, ND not documented 1 unknown unknown
-?/-? 03i c.330-27del
    + c.946+1G>A
r.(?) p.? c.330-27delG Deletion predicted to be benign with in silico analysis PORCN_00101 ? (unknown) non available Fernandes et al. 2010 DNA SEQ - Fernandes et al. 2010, Netherlands:Amsterdam Pt 11 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Enamel hypoplasia, ND ND Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND, Displaced anus, ND ND Osteopathia striata, ND, Omphalocele, ND, Occipitofrontal circumference lt P3-P10, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Height lt P3-P10, ND, Acral abnormalities, ND non documented 1 unknown unknown
-?/-? 03i c.330-11T>A
    + c.1331G>A
r.(?) p.? - Substitution possible begnin PORCN_00100 ? (unknown) not available Fernandes et al. 2010 DNA SBE FDH Fernandes et al. 2010 Pt 22 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND, Displaced anus, ND ND Osteopathia striata, ND, Omphalocele, ND, Occipitofrontal circumference lt P3-P10, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Height lt P3-P10, ND, Caudal appendage, ND, Acral abnormalities, ND not documented 1 unknown unknown
+/+ 03 c.360G>A r.(?) p.Trp120X - Substitution mosaic PORCN_00084 - - Fernandes et al. 2010 DNA SEQ - Fernandes et al. 2010 Pt 7 mosaic Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND, Displaced anus, ND ND Osteopathia striata, ND, Omphalocele, ND, Nipple hypoplasia in adults, ND, Hypohidrosis, ND, Caudal appendage, ND, Acral abnormalities, ND not documented 1 unknown unknown
+/+ 04 c.370C>T r.(?) p.Arg124X - nonsense mosaic PORCN_00012 de novo - Wang et al. 2007 DNA SEQ FDH/GGS Wang et al. 2007 G22-M - M Skin hypoplasia, Yes Syndactyly, Yes, Ectrodactyly, Yes ND ND ND ND ND ND Osteopathia striata, ND not documented 1 unknown unknown
+/+ 04 c.370C>T r.(?) p.Arg124X - nonsense - PORCN_00012 sporadic 50/50 Grzeschik et al. 2007 DNA SEQ FDH/GGS Grzeschik et al. 2007 GG4 - F Skin hypoplasia, Yes, Papilloma elsewhere, Yes Syndactyly, Yes yes ND ND ND ND ND ND yes, dental defects, esophageal papillomas 1 unknown unknown
+/+ 04 c.370C>T r.(?) p.Arg124X - nonsense postzygotic mosaic PORCN_00012 sporadic 50/50 Grzeschik et al. 2007 DNA SEQ FDH/GGS Grzeschik et al. 2007 GG5 - F Skin hypoplasia, Yes Asymmetrical skeletal defects, Yes ND ND ND ND ND yes Osteopathia striata, Yes non documented 1 unknown unknown
+/+ 04 c.370C>T r.(?) p.Arg124X - nonsense - PORCN_00012 sporadic 52/48 Bornholdt et al. 2009 DNA SEQ FDH/GGS Bornholdt et al. 2009 GG38 - F Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes Syndactyly, Yes, Asymmetrical skeletal defects, Yes ND ND Microophtalmia, Yes, Coloboma, Yes yes ND ND ND yes, unilateral hexadactyly 1 unknown unknown
+/+ 04 c.370C>T r.(?) p.Arg124X - nonsense - PORCN_00012 de novo not available MP Lombardi (unpublished) DNA SEQ FDH/GGS communicated by MP Lombardi AMC_2 - F Patchy alopecia, Yes, Nail dysplasia, No, Skin hypoplasia, Yes, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, No, Papilloma elsewhere, No Syndactyly, Yes, Polydactyly, No, Oligodactyly, No Oligodontia, Yes, Enamel hypoplasia, ND, Cleft lip/palate, No Yes Significantly decreased vision , No, Microophtalmia, No, Coloboma, No, Tear duct obstruction, ND ND Kidney malformation, No, Hydronephrosis, No, ND ND Osteopathia striata, ND, Omphalocele, ND, Hypohidrosis, ND, Caudal appendage, Yes, Acra abnormalities, No, IUGR, ND sacral dimple 1 UK Caucasian
+/+? 04 c.373G>A r.= p.Gly125Arg - Substitution - PORCN_00081 ? (unknown) non documented unpublished DNA SEQ - unpublished, United Kingdom (Great Britain):Aberdeen 0879703K - Female Patchy alopecia, No Syndactyly, Yes Enamel hypoplasia, Yes Yes Significantly decreased vision , No Yes Kidney malformation, Yes No Occipitofrontal circumference lt P3-P10, Yes widespread focal dermal hypoplasia, vesicoureteric reflux 1 UK European
+/+ 04i c.373+1G>A r.(?) p.? - splicing - PORCN_00013 de novo 61/39 Leoyklang et al. 2009 DNA SEQ FDH/GGS Leoyklang et al. 2009 patient 1 - F Nail dysplasia, Yes, Skin hypoplasia, Yes, Fat herniation , Yes Syndactyly, Yes, Ectrodactyly, Yes Cleft lip/palate,Yes ND Microophtalmia, Yes ND Kidney malformation, No ND yes yes, aniridia, R nipple absent, deformities of ribs 1 Thailand Thai
+/+ 04i c.374-46T>A r.(?) p.? - splicing - PORCN_00016 unknown 86/14 Harmsen et al. 2009 DNA SEQ FDH/GGS Harmsen et al. 2009 FDH5 - F Patchy alopecia, No, Nail dysplasia, Yes, Skin hypoplasia, Yes, Hyperpigmentation, No, Fat herniation , No Syndactyly, Yes, Polydactyly, Yes Oligodontia, No, Cleft lip/palate,Yes Yes Microophtalmia, Yes, Coloboma, Yes yes Heart defects , No ND yes coloboma R iris 1 unknown unknown
+/? 04i c.374-15T>A r.(?) p.? - splicing - PORCN_00015 de novo (inferred) not available Schaffer et al. 2009 DNA SEQ FDH/SCAP Schaffer et al. 2009 case report - F Skin hypoplasia, Yes yes yes ND yes ND ND ND yes yes, blashkolinear streaks of dermal hyperpigmentation, telangiectasias, hyperpigmented macules, soft yellow nodules 1 Ecuador unknown
+?/+? 04i c.374-15T>A r.(?) p.? - splicing - PORCN_00015 ? (unknown) not available Fernandes et al. 2010 DNA SEQ FDH Fernandes et al. 2010 Pt 24 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND, Displaced anus, ND ND Osteopathia striata, ND, Omphalocele, ND, Occipitofrontal circumference lt P3-P10, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND not available 1 unknown unknown
+/+ 04i c.374-1G>A r.(?) p.? - splicing - PORCN_00014 sporadic 84/16 Bornholdt et al. 2009 DNA SEQ FDH/GGS Bornholdt et al. 2009 GG32 - F Patchy alopecia, Yes, Skin hypoplasia, Yes Asymmetrical skeletal defects, Yes, Oligodactyly, Yes yes ND Significantly decreased vision, Yes, Microophtalmia, Yes ND ND ND ND dental defects, anophthalmia, hearing loss 1 unknown unknown
+/+ 5 c.387del r.(?) - in frame insertion 8 amino acids Deletion mRNA analysis shows a 13bp insertion created by an alternative splicing site PORCN_00118 ? (unknown) slightly skewed pattern in lesional skin Nakanishi et al. 2013 DNA SEQ - Nakanishi et al. 2013, M.P.L. case 2 mosaic Female Skin hypoplasia, Yes Syndactyly, No, Polydactyly, No Oligodontia, No ND Microophtalmia, No ND Displaced anus, No ND Osteopathia striata, No, Omphalocele, No only cutaneous symptoms present 1 Japan Japan
+/+ 05 c.407C>T r.(?) p.Ser136Phe - missense - PORCN_00017 sporadic 57/43 Bornholdt et al. 2009 DNA SEQ FDH/GGS Bornholdt et al. 2009 GG19 - F Skin hypoplasia, Yes Syndactyly, Yes, Asymmetrical skeletal defects, Yes, yes Cleft lip/palate,Yes ND Significantly decreased vision, Yes yes ND yes Omphalocele, Yes, yes yes, bilateral blindness, hearing loss, facial cleft, absence deformities of bones, brain defects 1 unknown unknown
+/+ 05 c.479dupA r.(?) p.Tyr160X - nonsense - PORCN_00018 de novo 52/48 Wang et al. 2007 DNA SEQ FDH/GGS Wang et al. 2007 G34-F - F Skin hypoplasia, Yes Syndactyly, Yes ND ND Microophtalmia, Yes ND ND ND ND yes, diastasis pubis, costovertebral dyssegmentation 1 unknown unknown
+/+ 05 c.502G>A r.(?) p.Gly168Arg - missense postzygotic mosaic PORCN_00019 sporadic - Bornholdt et al. 2009 DNA SEQ FDH/GGS Bornholdt et al. 2009 GG31 - M Skin hypoplasia, Yes Syndactyly, Yes yes ND Coloboma, Yes ND ND ND ND yes, dental defects 1 unknown unknown
+/+ 05 c.502G>A r.(?) p.Gly168Arg - missense - PORCN_00019 sporadic 50/50 Bornholdt et al. 2009 DNA SEQ FDH/GGS Bornholdt et al. 2009 GG27 - F Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes Syndactyly, Yes, Asymmetrical skeletal defects, Yes, Oligodactyly, Yes ND ND Coloboma, Yes yes Kidney malformation, Yes, Hydronephrosis, Yes, Displaced anus, Yes ND ND optic atrophy 1 unknown unknown
+/+ 05 c.502G>A r.(?) p.Gly168Arg - missense - PORCN_00019 de novo not available Maas et al. 2009 DNA SEQ FDH/GGS Maas et al. 2009 10 - F Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes, Papilloma periorally, Yes, Papilloma elsewhere, Yes Syndactyly, Yes, Polydactyly, No, Oligodactyly, Yes Oligodontia, No, Enamel hypoplasia, Yes, Cleft lip/palate, No yes Significantly decreased vision, Yes, Microophtalmia, Yes, Coloboma, Yes, yes ND Hydronephrosis, Yes, Heart defects , Yes ND Occipitofrontal circumference lt P3-P10, Yes, Caudal appendage, No, Acral abnormalities, Yes ala nasi coloboma, 2 ear tags, ASD 1 the Netherlands Caucasian
+?/+? 05 c.502G>A r.(?) p.Gly168Arg - missense postzygotic mosaic PORCN_00019 ? (unknown) - not published DNA SEQ - not published, M.P.L. AMC_00033 mosaic, mild phenotype Male Skin hypoplasia, Yes Syndactyly, ND Oligodontia, ND, Cleft lip/palate, ND ND Microophtalmia, ND, Coloboma, ND ND Heart defects, ND ND Osteopathia striata, ND, Omphalocele, ND - 1 Sweden -
+/+ 05 c.509G>A r.(?) p.Trp170X - nonsense - PORCN_00020 unknown not available Maas et al. 2009 DNA SEQ FDH/GGS Maas et al. 2009 2 - F Patchy alopecia, No, Nail dysplasia, Yes, Skin hypoplasia, Yes, Hyperpigmentation, Yes, Papilloma periorally, Yes, Papilloma elsewhere, No Syndactyly, No, Polydactyly, No, Oligodactyly, Yes Oligodontia, No, Enamel hypoplasia, Yes, Cleft lip/palate, No Yes Significantly decreased vision, Yes, Microophtalmia, Yes, Coloboma, Yes, Tear duct obstruction, No ND ND ND Occipitofrontal circumference lt P3-P10, Yes, Nipple hypoplasia in adults, Yes, Mammary hypoplasia in adults, Yes, Hypohidrosis, No, Height lt P3-P10, No, Caudal appendage, No, Acral abnormalities, Yes yes, unilateral absent clavicle, breast cancer in underdeveloped mamma 1 UK Caucasian
+/+ 05 c.509G>A r.(?) p.Trp170X - nonsense - PORCN_00020 familial 34/66 Harmsen et al. 2009 DNA SEQ FDH/GGS Harmsen et al. 2009 FDH9 mother and grandmother possibly affected F Patchy alopecia, Yes, Nail dysplasia, No, Skin hypoplasia, Yes, Hyperpigmentation, Yes, Fat herniation , No Syndactyly, Yes Oligodontia, Yes, Cleft lip/palate, No ND Microophtalmia, No, Coloboma, No no Hydronephrosis, Yes, Heart defects , No ND Omphalocele, No, IUGR, No yes, R leg shorter, Lymphedema, teleangiectasia, fibroma, bony cyst of fibula 1 unknown unknown
+?/+? 05i c.555+4A>G r.(?) p.? - Substitution splicing defect PORCN_00094 ? (unknown) not available Fernandes et al. 2010 DNA SEQ FDH Fernandes et al. 2010, Netherlands:Amsterdam Pt 25 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND, Displaced anus, ND ND Osteopathia striata, ND, Omphalocele, ND, Occipitofrontal circumference lt P3-P10, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Height lt P3-P10, ND, Caudal appendage, ND, Acral abnormalities, ND not documented 1 unknown unknown
+/+ 05i c.556-1G>C r.(?) p.? - Substitution splicing defect PORCN_00085 - not available Fernandes et al. 2010 DNA SEQ - Fernandes et al. 2010 Pt 8 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND ND Osteopathia striata, ND, Omphalocele, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Height lt P3-P10, ND, Caudal appendage, ND, Acral abnormalities, ND, IUGR, ND - 1 unknown unknown
+/+ 06 c.566G>A r.(?) p.Trp189X - Substitution truncation PORCN_00086 ? (unknown) not available Fernandes et al. 2010 DNA SEQ - Fernandes et al. 2010 Pt 9 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND, Displaced anus, ND ND Osteopathia striata, ND, Omphalocele, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, No, Caudal appendage, ND, Acral abnormalities, ND not documented 1 unknown unknown
+/+ 06 c.571C>T r.(?) p.Gln191X - nonsense postzygotic mosaic PORCN_00021 unknown - Maas et al. 2009 DNA (fibroblasts) SEQ FDH/GGS Maas et al. 2009 3 - M Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes, Hyperpigmentation, Yes, Papilloma periorally, No, Papilloma elsewhere, No Syndactyly, Yes, Polydactyly, No, Oligodactyly, No, yes Oligodontia, No, Enamel hypoplasia, Yes, yes yes Significantly decreased vision, Yes, Microophtalmia, Yes, Coloboma, Yes, Tear duct obstruction, Yes ND ND ND Occipitofrontal circumference lt P3-P10, No, Nipple hypoplasia in adults, No, Mammary hypoplasia in adults, No, Hypohidrosis, No, Height lt P3-P10, Yes, Caudal appendage, No, Acral abnormalities, Yes yes, unilateral ptosis, midline skin hypoplasia trunc, hearing loss, ala nasi coloboma, irregular vermillion 1 UK Caucasian
+/+ 06 c.576delG r.(?) p.Val193TrpfsX47 - frameshift same as c.577delG PORCN_00022 de novo 65/35 Wang et al. 2007 DNA SEQ FDH/GGS Wang et al. 2007 G4-F - F Skin hypoplasia, Yes, Fat herniation , Yes ND ND ND Microophtalmia, Yes ND ND Yes ND - 1 unknown unknown
+/+ 06 c.576delG r.(?) p.Val193TrpfsX47 - frameshift same as c.577delG PORCN_00022 ? (unknown) not available unpublished DNA SEQ FDH unpublished, Netherlands:Amsterdam AMC_17 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND, Displaced anus, ND ND Omphalocele, ND, Occipitofrontal circumference lt P3-P10, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Height lt P3-P10, ND, Caudal appendage, ND, Acral abnormalities, ND, IUGR, ND not documented 1 United Kingdom unknown
+?/+? 06 c.584_601del r.(?) p.Arg195_Ala200del - Deletion in-frame deletion PORCN_00106 de novo, in patient not available unpublished DNA SEQ FDH unpublished, Netherlands:Amsterdam AMC_18 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND, Displaced anus, ND ND Osteopathia striata, ND, Omphalocele, ND, Occipitofrontal circumference lt P3-P10, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Height lt P3-P10, ND, Caudal appendage, ND, Acral abnormalities, ND not documented 1 France unknown
+/+ 06 c.637delT r.(?) p.Tyr213ThrfsX27 - frameshift - PORCN_00023 de novo not available Maas et al. 2009 DNA SEQ FDH/GGS Maas et al. 2009 6 - F Patchy alopecia, No, Nail dysplasia, Yes, Skin hypoplasia, Yes, Papilloma periorally, Yes, Papilloma elsewhere, Yes Syndactyly, Yes, Polydactyly, No, Oligodactyly, Yes Oligodontia, Yes, Enamel hypoplasia, Yes, Cleft lip/palate, No Yes Significantly decreased vision, Yes, Microophtalmia, Yes, Coloboma, No, Tear duct obstruction, No ND yes ND Occipitofrontal circumference lt P3-P10, No, Nipple hypoplasia in adults, No, Mammary hypoplasia in adults, No, Hypohidrosis, Yes, Height lt P3-P10, Yes, Caudal appendage, No, Acral abnormalities, Yes yes, lymphedema legs 1 the Netherlands Caucasian
+/+ 06 c.670dup r.(?) p.Asp224GlyfsX92 - Duplication - PORCN_00087 ? (unknown) not available Fernandes et al. 2010 DNA SEQ - Fernandes et al. 2010, Netherlands:Amsterdam Pt 10 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND, Displaced anus, ND ND Osteopathia striata, ND, Omphalocele, ND, Occipitofrontal circumference lt P3-P10, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Height lt P3-P10, ND, Caudal appendage, ND, Acral abnormalities, ND not documented 1 unknown unknown
-?/-? 06 c.682C>T
    + c.737dup
r.(?) p.Arg228Cys - missense inherited from unaffected mother PORCN_00024 familial 82/18 Leoyklang et al. 2009 DNA SEQ FDH/GGS Leoyklang et al. 2009 Patient 2 c[.682C>T; 737_738insA] mutations are on same allele F Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes Ectrodactyly, Yes, yes Oligodontia, Yes, Cleft lip/palate,Yes ND Microophtalmia, Yes, Coloboma, Yes ND ND No Occipitofrontal circumference lt P3-P10, Yes, Height lt P3-P10, Yes yes, midface hypoplasia 1 Thailand Thai
-/- 08i c.719+15C>T
    + c.938T>G
r.(?) p.? - Substitution possible splicing defect predicted with in silico analysis, inherited from mildly affected mother AMC_22 PORCN_00109 familial 65/35 unpublished DNA SEQ FDH Contreras-Capetillo et al., 2013, Netherlands:Amsterdam AMC_21 daghter of AMC_22 Female Patchy alopecia, Yes, Nail dysplasia, No, Skin hypoplasia, Yes, Hyperpigmentation, No, Fat herniation , No, Papilloma periorally, Yes, Papilloma elsewhere, ND Syndactyly, Yes, Scoliosis, No, Polydactyly, No, Asymmetrical skeletal defects, Yes, Ectrodactyly, Yes, Oligodactyly, No Oligodontia, No, Enamel hypoplasia, No, Cleft lip/palate, No Yes Significantly decreased vision, Yes, Microophtalmia, Yes, Coloboma, No, Tear duct obstruction, ND ND Kidney malformation, No, Hydronephrosis, No, Heart defects , Yes, Displaced anus, No No Osteopathia striata, ND, Omphalocele, Yes, Occipitofrontal circumference lt P3-P10, Yes, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, No, Height lt P3-P10, Yes, Caudal appendage, No, Acral abnormalities, Yes, IUGR, ND Cantrell 1 Mexico unknown
-/- 08i c.719+15C>T
    + c.938T>G
r.(?) p.? - Substitution possible splicing defect predicted with in silico analysis PORCN_00109 ? (unknown) 50/50 unpublished DNA SEQ FDH Contreras-Capetillo et al., 2013, Netherlands:Amsterdam AMC_22 mother of AMC_21 Female Patchy alopecia, No, Nail dysplasia, No, Skin hypoplasia, No, Hyperpigmentation, Yes, Fat herniation , No, Papilloma periorally, No, Papilloma elsewhere, ND Syndactyly, Yes, Scoliosis, No, Polydactyly, No, Asymmetrical skeletal defects, Yes, Ectrodactyly, Yes, Oligodactyly, No Oligodontia, Yes, Enamel hypoplasia, ND No Significantly decreased vision, Yes, Microophtalmia, Yes, Coloboma, No, Tear duct obstruction, ND ND Kidney malformation, No, Hydronephrosis, No, Heart defects , No, Displaced anus, ND No Osteopathia striata, ND, Omphalocele, No, Occipitofrontal circumference lt P3-P10, No, Nipple hypoplasia in adults, No, Mammary hypoplasia in adults, No, Hypohidrosis, ND, Height lt P3-P10, No, Caudal appendage, No, Acral abnormalities, Yes, IUGR, ND - 1 Mexico unknown
-?/-? 08i c.720-28C>T
    + c.178G>A
r.(?) p.? - Substitution Predicted possible benign with in silico analysis PORCN_00102 ? (unknown) not available Fernandes et al. 2010 DNA SEQ - - Pt 5 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND ND Osteopathia striata, ND, Omphalocele, ND, Occipitofrontal circumference lt P3-P10, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Caudal appendage, ND not documented 1 unknown unknown
+/+ 08i c.720-2A>T r.(?) p.? - splicing - PORCN_00025 sporadic 55/45 Grzeschik et al. 2007 DNA SEQ FDH/GGS Grzeschik et al. 2007 GG6 - F Skin hypoplasia, Yes Asymmetrical skeletal defects, Yes ND ND Microophtalmia, Yes, Coloboma, Yes ND yes ND Omphalocele, Yes yes, horseshoe kidney, mitral valve prolapse 1 unknown unknown
+/+ 09 c.727C>T r.(?) p.Arg243X - nonsense - PORCN_00026 sporadic 65/35 Grzeschik et al. 2007 DNA SEQ FDH/GGS Grzeschik et al. 2007 GG7 - F Skin hypoplasia, Yes Syndactyly, Yes, Asymmetrical skeletal defects, Yes yes ND ND ND ND ND ND yes, dental defects 1 unknown unknown
+/+ 09 c.727C>T r.(?) p.Arg243X - nonsense - PORCN_00026 unknown non informative Harmsen et al. 2009 DNA SEQ FDH/GGS Harmsen et al. 2009 FDH12 - F Patchy alopecia, No, Skin hypoplasia, Yes, Hyperpigmentation, No, Fat herniation , No Syndactyly, Yes, Oligodactyly, Yes Oligodontia, No, Cleft lip/palate, No Yes Microophtalmia, No, Coloboma, Yes no Heart defects , Yes ND Omphalocele, Yes, IUGR, Yes hypoplastic left heart, lethal outcome 1 unknown unknown
+/+ 09 c.727C>T r.(?) p.Arg243X - nonsense - PORCN_00026 unknown not available MP Lombardi (unpublished) DNA SEQ FDH/GGS communicated by MP Lombardi, Netherlands:Amsterdam AMC_3 - F yes yes yes yes yes ND ND ND yes yes 1 UK unknown
+/+ 09 c.727C>T r.(?) p.Arg243X - nonsense - PORCN_00026 unknown not available Smigiel et al. 2011 DNA SEQ FDH/GGS Smigiel et al. 2011 AMC_4 born 09-02-2009 F Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, Yes, Scoliosis, ND, Asymmetrical skeletal defects, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate,Yes Yes Significantly decreased vision, Yes ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects , No, Displaced anus, Yes Yes Osteopathia striata, ND, Omphalocele, Yes, Caudal appendage, Yes, IUGR, Yes Pentalogy of Cantrell, absence lower sternum, ectopia cordis, multiple limb malformations, anophtalmia (bilateral), agenesis corpus callosum, colpocephaly, unil. hear loss, bifid nose 1 Poland Caucasian
+/+ 09 c.727C>T r.(?) p.Arg243X - nonsense mosaic PORCN_00026 ? (unknown) not available Grzeschik et al. 2007 DNA SEQ - unpublished, M.P.L. AMC_12 - Female Skin hypoplasia, Yes Syndactyly, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Oligodactyly, ND Enamel hypoplasia, ND, Cleft lip/palate, ND ND Microophtalmia, ND, Coloboma, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND ND Caudal appendage, ND - 1 Nigerian Black
+/+ 09 c.737dup
    + c.682C>T
r.(?) p.Ser247GlufsX69 c.737_738insA; p.Ser247GlufsX315 frameshift - PORCN_00028 de novo 82/18 Leoyklang et al. 2009 DNA SEQ FDH/GGS Leoyklang et al. 2009 Patient 2 c[.682C>T; 737_738insA] mutations are on same allele F Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes Ectrodactyly, Yes, yes Oligodontia, Yes, Cleft lip/palate,Yes ND Microophtalmia, Yes, Coloboma, Yes ND ND No Occipitofrontal circumference lt P3-P10, Yes, Height lt P3-P10, Yes yes, midface hypoplasia 1 Thailand Thai
+/+ 09 c.754C>T r.(?) p.His252Tyr - missense - PORCN_00027 de novo not available Lombardi et al, 2011 DNA SEQ FDH/GGS Lombardi et al, 2011 AMC_5 born 05-12-2009 F Nail dysplasia, Yes, Skin hypoplasia, Yes, Papilloma periorally, No, Papilloma elsewhere, No Syndactyly, Yes, Ectrodactyly, No, Oligodactyly, No Oligodontia, ND, Cleft lip/palate, No No Microophtalmia, No, Coloboma, Yes Yes ND No ND ND 1 Sweden Caucasian
+/+ 09 c.773T>A r.(?) p.Val258Glu - missense - PORCN_00029 sporadic 82/18 Bornholdt et al. 2009 DNA SEQ FDH/GGS Bornholdt et al. 2009 GG39 - F Patchy alopecia, Yes, Skin hypoplasia, Yes Syndactyly, Yes, Asymmetrical skeletal defects, Yes, Oligodactyly, Yes, yes ND ND Microophtalmia, Yes, Coloboma, Yes, yes yes Kidney malformation, Yes, yes ND ND hexadactyly 1 unknown unknown
+/+ 9 c.785C>A r.? p.Ser262Tyr - Substitution - PORCN_00113 ? (unknown) not documented unpublished DNA SEQ FDH unpublished, M.P.L. AMC_27 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND Polydactyly, ND, Asymmetrical skeletal defects, ND Oligodontia, ND ND Significantly decreased vision , ND ND Kidney malformation, ND ND Osteopathia striata, ND, Omphalocele, ND - 1 UK unknown
+?/+? 09 c.787G>A r.(?) p.Glu263Lys - - - PORCN_00107 ? (unknown) not available unpublished DNA SEQ FDH unpublished, Netherlands:Amsterdam AMC_20 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND, Papilloma periorally, ND, Papilloma elsewhere, ND Syndactyly, ND, Scoliosis, ND, Polydactyly, ND, Asymmetrical skeletal defects, ND, Ectrodactyly, ND, Oligodactyly, ND Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, ND ND Significantly decreased vision , ND, Microophtalmia, ND, Coloboma, ND, Tear duct obstruction, ND ND Kidney malformation, ND, Hydronephrosis, ND, Heart defects, ND, Displaced anus, ND ND Osteopathia striata, ND, Omphalocele, ND, Occipitofrontal circumference lt P3-P10, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Height lt P3-P10, ND, Caudal appendage, ND, Acral abnormalities, ND - 1 unknown unknown
+/+ 09 c.787_792dup r.(?) p.Glu263_Ala264dup p.Glu262_Ala263dup insertion/duplication - PORCN_00030 de novo 90/10 Wang et al. 2007 DNA SEQ FDH/GGS Wang et al. 2007 G10-F - F Nail dysplasia, Yes, Skin hypoplasia, Yes, Fat herniation , Yes, Papilloma elsewhere, Yes Syndactyly, Yes Oligodontia, Yes ND Coloboma, Yes ND ND No ND - 1 unknown unknown
+/+ 09 c.815_816dup r.(?) p.Phe273AlafsX13 c.816_817insGC; p.Phe273fsX284 frameshift postzygotic mosaic PORCN_00031 sporadic 60/40 Grzeschik et al. 2007 DNA SEQ FDH/GGS Grzeschik et al. 2007 GG8 - F Patchy alopecia, Yes, Skin hypoplasia, Yes Syndactyly, Yes, Asymmetrical skeletal defects, Yes ND ND Coloboma, Yes ND ND ND ND non documented 1 unknown unknown
+/+ 09i c.845+1G>C r.(?) - - - - PORCN_00077 ? (unknown) not available Lombardi et al, 2011 DNA SEQ - Lombardi et al, 2011, M.P.L. AMC_9 KF born 16-12-2008, referred by Anne Lampe, Edinburgh Female Nail dysplasia, No, Skin hypoplasia, No, Papilloma periorally, No, Papilloma elsewhere, No Syndactyly, Yes, Polydactyly, ND, Ectrodactyly, Yes, Oligodactyly, Yes Oligodontia, Yes, Cleft lip/palate, No Yes Microophtalmia, No, Coloboma, Yes, Tear duct obstruction, No Yes Displaced anus, Yes No Occipitofrontal circumference lt P3-P10, ND hypopigmentation following Blasko lines, hypoplastic R clavicle, ptosis, blepharophimosis, large exomphalos 1 G.B. Caucasian
+/+ i9 c.845+2T>G r.? - - Substitution splicing PORCN_00112 ? (unknown) unknown unpublished DNA SEQ FDH unpublished, M.P.L. AMC_26 - Female Patchy alopecia, ND, Nail dysplasia, ND, Skin hypoplasia, ND, Hyperpigmentation, ND, Fat herniation , ND Syndactyly, ND Oligodontia, ND ND Significantly decreased vision , ND ND Kidney malformation, ND ND Osteopathia striata, ND - 1 Iceland unknown
-/? 9 c.853_855delACG - p.Thr285del - Deletion - PORCN_00116 de novo, somatic mosaicism - Peters et al., 2014 DNA PCR FDH Peters et al. 2014, Canada:Calgary BCG - Male Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes, Hyperpigmentation, Yes, Fat herniation , No, Papilloma periorally, No, Papilloma elsewhere, No Syndactyly, Yes, Scoliosis, ND, Polydactyly, No, Asymmetrical skeletal defects, Yes, Ectrodactyly, Yes, Oligodactyly, Yes Oligodontia, ND, Enamel hypoplasia, ND, Cleft lip/palate, No ND Significantly decreased vision, Yes, Significantly decreased vision , ND, Microophtalmia, No, Coloboma, Yes, Tear duct obstruction, ND Yes Kidney malformation, No, Hydronephrosis, No, Heart defects , No, Displaced anus, ND ND Osteopathia striata, No, Omphalocele, No, Occipitofrontal circumference lt P3-P10, ND, Nipple hypoplasia in adults, ND, Mammary hypoplasia in adults, ND, Hypohidrosis, ND, Height lt P3-P10, ND, Caudal appendage, ND, Acral abnormalities, ND, IUGR, Yes Lumbar meningocele, Arnold-Chiari malformation and hydrocephalus 1 Nigeria Nigerian
+/+ 10 c.846G>A r.(?) p.Trp282X - nonsense/splicing - PORCN_00032 unknown non informative Clements et al. 2009 DNA SEQ FDH/GGS Clements et al. 2009 Proband 1 - F Patchy alopecia, Yes, Nail dysplasia, Yes, Skin hypoplasia, Yes, Hyperpigmentation, Yes, Fat herniation , Yes Syndactyly, Yes, Scoliosis, Yes, Asymmetrical skeletal defects, Yes, Oligodactyly, Yes ND yes ND ND ND ND Omphalocele, Yes mid facial hypoplasia 1 UK Caucasian
+/+ 10 c.846_879del34 r.(?) p.Trp282CysfsX21 p.Trp282fsX302 frameshift - PORCN_00033 sporadic 62/38 Bornholdt et al. 2009 DNA SEQ FDH/GGS Bornholdt et al. 2009 GG18 - F Nail dysplasia, Yes, Skin hypoplasia, Yes, Papilloma periorally, Yes, Papilloma elsewhere, Yes Syndactyly, Yes, Asymmetrical skeletal defects, Yes, yes Cleft lip/palate,Yes, yes ND Coloboma, Yes ND ND yes Omphalocele, Yes yes, dental defects, caudal cord defects 1 unknown unknown
+/+ 10 c.854_855ins r.(?) p.Thr285fsX316 c.854_855insACCTGAC Insertion frameshift/truncation PORCN_00097 ? (unknown) random Xi in blood and unaffected skin, skewed in affected skin Maalouf et al. 2012 DNA SEQ FDH Maalouf et al. 2012, Netherlands:Amsterdam case report FDH with unilateral (left) presentation Female Patchy alopecia, No, Nail dysplasia, No, Skin hypoplasia, Yes, Fat herniation , Yes, Papilloma elsewhere, Yes Syndactyly, Yes, Scoliosis, No Enamel hypoplasia, Yes ND Significantly decreased vision , No, Microophtalmia, No, Coloboma, No, Tear duct obstruction, No ND Kidney malformation, No, Heart defects , No No Mammary hypoplasia in adults, Yes lobster claw deformity 1 Lebanon unknown
+/+? 10 c.886delC r.(?) p.Arg296GlyfsX18 - - postzygotic mosaicism, not detected in mother detected in blood PORCN_00080 ? (unknown) - Vreeburg et al. 2010 DNA SEQ FDH Vreeburg et al. 2010 report_Vreeburg 5-year-old boy, mild phenotype Male Skin hypoplasia, Yes Syndactyly, Yes Oligodontia, No, Cleft lip/palate, No Yes Microophtalmia, No, Coloboma, No, Tear duct obstruction, No Yes Kidney malformation, No, Hydronephrosis, No, Heart defects , No, Displaced anus, No No Occipitofrontal circumference lt P3-P10, Yes, Height lt P3-P10, Yes asymmetries, linear alopecia, clinodactyly, cutaneous syndactyly, born at 29 w gestation 1 The Netherlands Caucasian
1 - 100
[<-] 1 2 [->]


Legend: [ PORCN full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Variant Original description: Original report Type: Type of variant at DNA level. Variant remarks: Variant remarks PORCN DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Origin: Origin X_inactivation: X skewing Reference: Reference Detection/Template: Detection/Template Detection/Technique: Detection/Technique Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Patient ID: Reference to the patient. Gender: Patient gender Phenotype _Skin: Presence of major skin abnormalities: Skin hypoplasia; Hyperpigmentation; Fat herniation Nail dysplasia; Patchy alopecia; Papilloma periorally; Papilloma elsewhere (ND = non documented) Phenotype_Skeleton: Presence of major Skeleton features: Oligodactily; Polydactily; Syndactily; Scoliosis; Other asymmetric limb defects (ND = not documented) Phenotype_Oral_findings: Presence of major Oral findings features: Cleft lip/palate; Oligodontia; Enamel hypoplasia (ND = not documented) Thin_protruding_ears: Presence of thin, protruding ears Phenotype _Eye: Presence of major eye features: Significantly decreased vision, Microophtalmia, Coloboma, Tear duct obstruction (ND = not documented) Microcephaly: Presence of major brain feature: Microcephaly Phenotype_Internal_organs: Presence of major internal organs features: Heart defects; Kidney malformation; Hydronephrosis; Displaced anus (ND = not documented) Mental retardation: Presence of Mental Retardation: Yes, No, ND (= not documented) Phenotype_Other_findings: Presence of other major features (ND = not documented; lt = less than) Phenotype additional: Phenotype, additional features # Reported: Number of times this case has been reported Geographic origin: Geographic origin of patient Ethnic origin: Ethnic origin of patient