 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
- |
deletion |
r.(?) |
deletion PORCN and EBP +? |
- |
Deletion |
- |
PORCN_00115 |
? (unknown) |
not documented |
Patrizi et al. 2012 |
DNA |
MAPH |
- |
Deletion ex 1-4 |
r.(?) |
del PORCN |
- |
deletion |
- |
PORCN_00064 |
sporadic |
83/17 |
Bornholdt et al. 2009 |
DNA |
array CGH/MAPH |
- |
Deletion ex 1-8 (Reported 2 times) |
r.(?) |
del PORCN |
- |
Deletion |
mosaic
|
PORCN_00119 |
? (unknown) |
unknown |
Sellars et al. 2013 |
DNA |
arrayCGH |
- |
Microdeletion 1 |
r.(?) |
del PORCN |
- |
deletion |
- |
PORCN_00065 |
sporadic |
98/2 |
Bornholdt et al. 2009 |
DNA |
array CGH/MAPH |
- |
Microdeletion 2 |
r.(?) |
del PORCN |
- |
deletion |
- |
PORCN_00066 |
sporadic |
100/0 |
Bornholdt et al. 2009 |
DNA |
MAPH |
- |
Microdeletion 3 |
r.(?) |
del PORCN |
- |
deletion |
- |
PORCN_00067 |
Familial |
100/0 |
Bornholdt et al. 2009 |
DNA |
MAPH |
- |
~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 |
- |
112 kb del |
r.(?) |
del PORCN |
- |
Deletion |
phenotype is angioma serpiginosum |
PORCN_00075 |
familial |
100/0 |
Houge, 2008 |
DNA |
arrayCGH |
- |
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 |
- |
150 kb del |
r.(?) |
del PORCN |
- |
deletion |
- |
PORCN_00073 |
de novo |
non informative |
Froyen et al. 2009 |
DNA |
array CGH |
- |
219 kb deletion |
r.(?) |
del PORCN |
- |
deletion |
- |
PORCN_00072 |
de novo |
100/0 |
Wang et al. 2007 |
DNA |
arrayCGH,FISH,qPCR |
- |
364.864 bp deletion |
r.(?) |
del SLC38A5, FTSJ1, PORCN,EBP |
- |
deletion |
- |
PORCN_00069 |
Familial |
99/1 |
Grzeschik et al. 2007 |
DNA |
array CGH/MAPH |
- |
377.520 bp deletion |
r.(?) |
del PORCN |
- |
deletion |
- |
PORCN_00070 |
Familial |
97/3 |
Grzeschik et al. 2007 |
DNA |
array CGH/MAPH |
- |
502 kb deletion |
r.(?) |
del PORCN +? |
- |
Deletion |
mutation inherited from mildly affected mother |
PORCN_00078 |
familial |
99/1 |
Lombardi et al, 2011 |
DNA |
arrayCGH |
02 |
c.1A>G |
r.(?) |
p.Met1? |
- |
missense |
- |
PORCN_00001 |
de novo |
not available |
Lombardi et al, 2011 |
DNA |
SEQ |
02 |
c.3G>A |
r.(?) |
p.Met1? |
p.Met1Ile |
missense |
- |
PORCN_00002 |
sporadic |
79/21 |
Bornholdt et al. 2009 |
DNA |
SEQ |
02 |
c.49dupT |
r.(?) |
p.Cys17LeufsX11 |
- |
frameshift |
- |
PORCN_00003 |
de novo |
54/46 |
Harmsen et al. 2009 |
DNA |
SEQ |
02 |
c.53dupT |
r.(?) |
p.Leu19ProfsX9 |
p.Leu18LeufsX10 |
frameshift |
- |
PORCN_00004 |
de novo |
50/50 |
Wang et al. 2007 |
DNA |
SEQ |
02 |
c.74delG |
r.(?) |
p.Gly25AlafsX27 |
- |
frameshift |
- |
PORCN_00005 |
unknown (adopted) |
66.6/33.4 |
Clements et al. 2009 |
DNA |
SEQ |
02 |
c.108C>A |
r.(?) |
p.C36X |
- |
Substitution |
- |
PORCN_00082 |
? (unknown) |
not available |
Fernandes et al, 2010 |
DNA |
SEQ |
02 |
c.129G>A (Reported 2 times) |
r.(?) |
p.Trp43X |
- |
Substitution |
truncation, detected in blood |
PORCN_00099 |
de novo, somatic mosaicism |
- |
Yoshihashi et al. 2010 |
DNA |
SEQ |
02i |
c.136+1G>A |
r.(?) |
p.? |
IVS2+1G>A |
Substitution |
splicing defect |
PORCN_00098 |
? (unknown) |
not available |
Kapoor et al. 2012 |
DNA |
SEQ |
02i |
c.136+2delT |
r.(?) |
p.? |
- |
Substitution |
splicing defect |
PORCN_00083 |
? (unknown) |
not available |
Fernandes et al, 2010 |
DNA |
SEQ |
02i |
c.137-3A>G |
r.(?) |
p.? |
- |
Substitution |
splicing defect predicted with in silico analysis |
PORCN_00105 |
? (unknown) |
not available |
unpublished |
DNA |
SEQ |
03 |
c.166_167dup (Reported 2 times) |
r.(?) |
p.Val57ProfsX60 |
- |
frameshift |
- |
PORCN_00006 |
unknown |
83/17 |
Harmsen et al. 2009 |
DNA |
SEQ |
03 |
c.178G>A (Reported 7 times) |
r.(?) |
p.Gly60Arg |
- |
missense |
- |
PORCN_00007 |
mother low level mosaicism |
63/37 |
Wang et al. 2007 |
DNA |
SEQ |
03 |
c.221G>A |
r.(?) |
p.Trp74X |
- |
nonsense |
- |
PORCN_00008 |
de novo |
76/24 |
Harmsen et al. 2009 |
DNA |
SEQ |
03 |
c.222G>A |
r.(?) |
p.Trp74X |
- |
nonsense |
- |
PORCN_00009 |
sporadic |
65/35 |
Grzeschik et al. 2007 |
DNA |
SEQ |
03 |
c.268C>T (Reported 4 times) |
r.(?) |
p.Arg90X |
- |
nonsense |
- |
PORCN_00010 |
unknown |
81/19 |
Wang et al. 2007 |
DNA |
SEQ |
03 |
c.283C>T (Reported 3 times) |
r.(?) |
p.Arg95X |
- |
nonsense |
- |
PORCN_00011 |
sporadic |
55/45 |
Bornholdt et al. 2009 |
DNA |
SEQ |
03i |
c.330-27del |
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 |
03i |
c.330-11T>A |
r.(?) |
p.? |
- |
Substitution |
possible begnin |
PORCN_00100 |
? (unknown) |
not available |
Fernandes et al. 2010 |
DNA |
SBE |
03 |
c.360G>A |
r.(?) |
p.Trp120X |
- |
Substitution |
mosaic |
PORCN_00084 |
- |
- |
Fernandes et al. 2010 |
DNA |
SEQ |
04 |
c.370C>T (Reported 5 times) |
r.(?) |
p.Arg124X |
- |
nonsense |
mosaic |
PORCN_00012 |
de novo |
- |
Wang et al. 2007 |
DNA |
SEQ |
04 |
c.373G>A |
r.= |
p.Gly125Arg |
- |
Substitution |
- |
PORCN_00081 |
? (unknown) |
non documented |
unpublished |
DNA |
SEQ |
04i |
c.373+1G>A |
r.(?) |
p.? |
- |
splicing |
- |
PORCN_00013 |
de novo |
61/39 |
Leoyklang et al. 2009 |
DNA |
SEQ |
04i |
c.374-46T>A |
r.(?) |
p.? |
- |
splicing |
- |
PORCN_00016 |
unknown |
86/14 |
Harmsen et al. 2009 |
DNA |
SEQ |
04i |
c.374-15T>A (Reported 2 times) |
r.(?) |
p.? |
- |
splicing |
- |
PORCN_00015 |
de novo (inferred) |
not available |
Schaffer et al. 2009 |
DNA |
SEQ |
04i |
c.374-1G>A |
r.(?) |
p.? |
- |
splicing |
- |
PORCN_00014 |
sporadic |
84/16 |
Bornholdt et al. 2009 |
DNA |
SEQ |
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 |
05 |
c.407C>T |
r.(?) |
p.Ser136Phe |
- |
missense |
- |
PORCN_00017 |
sporadic |
57/43 |
Bornholdt et al. 2009 |
DNA |
SEQ |
05 |
c.479dupA |
r.(?) |
p.Tyr160X |
- |
nonsense |
- |
PORCN_00018 |
de novo |
52/48 |
Wang et al. 2007 |
DNA |
SEQ |
05 |
c.502G>A (Reported 4 times) |
r.(?) |
p.Gly168Arg |
- |
missense |
postzygotic mosaic |
PORCN_00019 |
sporadic |
- |
Bornholdt et al. 2009 |
DNA |
SEQ |
05 |
c.509G>A (Reported 2 times) |
r.(?) |
p.Trp170X |
- |
nonsense |
- |
PORCN_00020 |
unknown |
not available |
Maas et al. 2009 |
DNA |
SEQ |
05i |
c.555+4A>G |
r.(?) |
p.? |
- |
Substitution |
splicing defect |
PORCN_00094 |
? (unknown) |
not available |
Fernandes et al. 2010 |
DNA |
SEQ |
05i |
c.556-1G>C |
r.(?) |
p.? |
- |
Substitution |
splicing defect |
PORCN_00085 |
- |
not available |
Fernandes et al. 2010 |
DNA |
SEQ |
06 |
c.566G>A |
r.(?) |
p.Trp189X |
- |
Substitution |
truncation |
PORCN_00086 |
? (unknown) |
not available |
Fernandes et al. 2010 |
DNA |
SEQ |
06 |
c.571C>T |
r.(?) |
p.Gln191X |
- |
nonsense |
postzygotic mosaic |
PORCN_00021 |
unknown |
- |
Maas et al. 2009 |
DNA (fibroblasts) |
SEQ |
06 |
c.576delG (Reported 2 times) |
r.(?) |
p.Val193TrpfsX47 |
- |
frameshift |
same as c.577delG |
PORCN_00022 |
de novo |
65/35 |
Wang et al. 2007 |
DNA |
SEQ |
06 |
c.584_601del |
r.(?) |
p.Arg195_Ala200del |
- |
Deletion |
in-frame deletion |
PORCN_00106 |
de novo, in patient |
not available |
unpublished |
DNA |
SEQ |
06 |
c.637delT |
r.(?) |
p.Tyr213ThrfsX27 |
- |
frameshift |
- |
PORCN_00023 |
de novo |
not available |
Maas et al. 2009 |
DNA |
SEQ |
06 |
c.670dup |
r.(?) |
p.Asp224GlyfsX92 |
- |
Duplication |
- |
PORCN_00087 |
? (unknown) |
not available |
Fernandes et al. 2010 |
DNA |
SEQ |
06 |
c.682C>T |
r.(?) |
p.Arg228Cys |
- |
missense |
inherited from unaffected mother |
PORCN_00024 |
familial |
82/18 |
Leoyklang et al. 2009 |
DNA |
SEQ |
08i |
c.719+15C>T (Reported 2 times) |
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 |
08i |
c.720-28C>T |
r.(?) |
p.? |
- |
Substitution |
Predicted possible benign with in silico analysis |
PORCN_00102 |
? (unknown) |
not available |
Fernandes et al. 2010 |
DNA |
SEQ |
08i |
c.720-2A>T |
r.(?) |
p.? |
- |
splicing |
- |
PORCN_00025 |
sporadic |
55/45 |
Grzeschik et al. 2007 |
DNA |
SEQ |
09 |
c.727C>T (Reported 5 times) |
r.(?) |
p.Arg243X |
- |
nonsense |
- |
PORCN_00026 |
sporadic |
65/35 |
Grzeschik et al. 2007 |
DNA |
SEQ |
09 |
c.737dup |
r.(?) |
p.Ser247GlufsX69 |
c.737_738insA; p.Ser247GlufsX315 |
frameshift |
- |
PORCN_00028 |
de novo |
82/18 |
Leoyklang et al. 2009 |
DNA |
SEQ |
09 |
c.754C>T |
r.(?) |
p.His252Tyr |
- |
missense |
- |
PORCN_00027 |
de novo |
not available |
Lombardi et al, 2011 |
DNA |
SEQ |
09 |
c.773T>A |
r.(?) |
p.Val258Glu |
- |
missense |
- |
PORCN_00029 |
sporadic |
82/18 |
Bornholdt et al. 2009 |
DNA |
SEQ |
9 |
c.785C>A |
r.? |
p.Ser262Tyr |
- |
Substitution |
- |
PORCN_00113 |
? (unknown) |
not documented |
unpublished |
DNA |
SEQ |
09 |
c.787G>A |
r.(?) |
p.Glu263Lys |
- |
- |
- |
PORCN_00107 |
? (unknown) |
not available |
unpublished |
DNA |
SEQ |
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 |
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 |
09i |
c.845+1G>C |
r.(?) |
- |
- |
- |
- |
PORCN_00077 |
? (unknown) |
not available |
Lombardi et al, 2011 |
DNA |
SEQ |
i9 |
c.845+2T>G |
r.? |
- |
- |
Substitution |
splicing |
PORCN_00112 |
? (unknown) |
unknown |
unpublished |
DNA |
SEQ |
9 |
c.853_855delACG |
- |
p.Thr285del |
- |
Deletion |
- |
PORCN_00116 |
de novo, somatic mosaicism |
- |
Peters et al., 2014 |
DNA |
PCR |
10 |
c.846G>A |
r.(?) |
p.Trp282X |
- |
nonsense/splicing |
- |
PORCN_00032 |
unknown |
non informative |
Clements et al. 2009 |
DNA |
SEQ |
10 |
c.846_879del34 |
r.(?) |
p.Trp282CysfsX21 |
p.Trp282fsX302 |
frameshift |
- |
PORCN_00033 |
sporadic |
62/38 |
Bornholdt et al. 2009 |
DNA |
SEQ |
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 |
10 |
c.886delC |
r.(?) |
p.Arg296GlyfsX18 |
- |
- |
postzygotic mosaicism, not detected in mother
detected in blood |
PORCN_00080 |
? (unknown) |
- |
Vreeburg et al. 2010 |
DNA |
SEQ |
10 |
c.890C>T (Reported 2 times) |
r.(?) |
p.Ser297Leu |
- |
missense |
- |
PORCN_00034 |
de novo |
not available |
Maas et al. 2009 |
DNA |
SEQ |
10 |
c.898G>T |
r.(?) |
p.Glu300X |
- |
nonsense |
- |
PORCN_00035 |
de novo |
not available |
Clements et al. 2008 |
DNA |
SEQ |
10 |
c.914G>A |
r.(?) |
p.Trp305X |
- |
nonsense |
- |
PORCN_00036 |
unknown |
not available |
Lombardi et al, 2011 |
DNA |
SEQ |
10 |
c.924delC |
r.(?) |
p.Met309CysfsX5 |
p.308fsX313 |
frameshift |
- |
PORCN_00037 |
sporadic |
80/20 |
Grzeschik et al. 2007 |
DNA |
SEQ |
10 |
c.935G>A |
r.(?) |
p.Trp312X |
- |
nonsense |
- |
PORCN_00038 |
sporadic |
non informative |
Bornholdt et al. 2009 |
DNA |
SEQ |
10 |
c.938T>G (Reported 2 times) |
r.(?) |
p.Leu313Arg |
- |
Substitution |
inherited from mildly affected mother AMC_22 |
PORCN_00108 |
familial |
65/35 |
Contreras-Capetillo et al., 2013 |
DNA |
SEQ |
10i |
c.946+1G>A |
r.(?) |
p.? |
- |
Substitution |
splicing defect |
PORCN_00088 |
? (unknown) |
non available |
Fernandes et al. 2010 |
DNA |
SEQ |
10i |
c.947-2A>C (Reported 2 times) |
r.(?) |
p.? |
- |
splicing |
- |
PORCN_00039 |
familial |
95/5 |
Maas et al. 2009 |
DNA |
SEQ |
10i |
c.947-1G>C |
r.(?) |
p.? |
- |
splicing |
- |
PORCN_00040 |
unknown |
not available |
Lombardi et al, 2011 |
DNA |
SEQ |
11 |
c.992T>G |
r.(?) |
p.Leu331Arg |
- |
missense |
- |
PORCN_00041 |
de novo |
94/6 |
Froyen et al. 2009 |
DNA |
SEQ |
11 |
c.1012G>C |
r.? |
p.Ala338Pro |
- |
Substitution |
- |
PORCN_00111 |
de novo |
unknown |
unpublished |
DNA |
SEQ |
11 |
c.1021C>T |
r.(?) |
p.His341Tyr |
- |
Substitution |
- |
PORCN_00089 |
de novo |
non available |
Fernandes et al. 2010 |
DNA |
SEQ |
11 |
c.1022A>T |
r.(?) |
p.His341Leu |
- |
missense |
- |
PORCN_00042 |
sporadic |
50/50 |
Bornholdt et al. 2009 |
DNA |
SEQ |
11i |
c.1024-2A>G |
r.(?) |
- |
- |
- |
- |
PORCN_00076 |
? (unknown) |
not available |
Lombardi et al, 2011 |
DNA |
SEQ |
11i |
c.1024-1G>A |
r.(?) |
p.? |
- |
Substitution |
splicing defect |
PORCN_00104 |
? (unknown) |
non available |
unpublished |
DNA |
SEQ |
12 |
c.1040T>C |
r.(?) |
p.Leu347Pro |
- |
Substitution |
- |
PORCN_00095 |
? (unknown) |
not available |
Fernandes et al. 2010 |
DNA |
SEQ |
12 |
c.1045_1065del21 |
r.(?) |
p.Ala349_Ala355del |
- |
in-frame deletion |
- |
PORCN_00043 |
unknown |
50/50 |
Wang et al. 2007 |
DNA |
SEQ |
12 |
c.1047_1054dup |
r.(?) |
p.Leu352ArgfsX50 |
- |
Duplication |
frameshift/truncation, detected in blood |
PORCN_00110 |
? (unknown) |
- |
unpublished |
DNA |
SEQ |
12 |
c.1059_1071dup13 (Reported 2 times) |
r.(?) |
p.Thr358ProfsX65 |
- |
frameshift |
- |
PORCN_00044 |
father mosaic for mutation |
non informative |
Wang et al. 2007 |
DNA |
SEQ |
12 |
c.1061_1062insAGGACCCT |
r.(?) |
p.Ala355GlyfsX47 |
p.L354fsX401 |
frameshift |
postzygotic mosaic |
PORCN_00074 |
sporadic |
non informative |
Grzeschik et al. 2007 |
DNA |
SEQ |
12 |
c.1064_1081del18 |
r.(?) |
p.Ala355_Val360del |
p.Ala355_Val360del6 |
in-frame deletion |
mosaic |
PORCN_00045 |
de novo |
- |
Wang et al. 2007 |
DNA |
SEQ |
12 |
c.1076dup |
r.(?) |
p.Tyr359X |
- |
Duplication |
truncation
|
PORCN_00090 |
? (unknown) |
not available |
Fernandes et al. 2010 |
DNA |
SEQ |
12 |
c.1077C>A |
r.(?) |
p.Tyr359X |
- |
nonsense |
- |
PORCN_00046 |
familial |
96/4 |
Bornholdt et al. 2009 |
DNA |
SEQ |
12 |
c.1077C>G |
r.(?) |
p.Tyr359X |
- |
- |
mutation not detected in mother, father not available |
PORCN_00079 |
? (unknown) |
100/0 |
Dias et al. 2010 |
DNA |
SEQ |
12 |
c.1082A>T |
r.(?) |
p.Glu361Val |
- |
missense |
- |
PORCN_00047 |
de novo |
32/38 |
Harmsen et al. 2009 |
DNA |
SEQ |
13 |
c.1093C>G (Reported 2 times) |
r.(?) |
p.Arg365Gly |
- |
missense |
mosaic |
PORCN_00048 |
de novo |
- |
Wang et al. 2007 |
DNA |
SEQ |
13 |
c.1094G>A (Reported 9 times) |
r.(?) |
p.Arg365Gln |
- |
missense |
postzygotic mosaic |
PORCN_00049 |
sporadic |
non informative |
Bornholdt et al. 2009 |
DNA |
SEQ |
13 |
c.1106C>T |
r.(?) |
p.Ala369Val |
- |
Substitution |
- |
PORCN_00096 |
- |
not available |
Fernandes et al. 2010 |
DNA |
SEQ |
13 |
c.1110delG |
r.(?) |
p.Ile371SerfsX28 |
p.Arg370fsX398 |
frameshift |
postzygotic mosaic |
PORCN_00050 |
sporadic |
- |
Bornholdt et al. 2009 |
DNA |
SEQ |