Usher Syndrome Database

Database Access

USHbases are now available on LOVD. The previous version has been improved with two new databases, GPR98 and WHRN. The aim remains identical: centralising published and unpublished genetic data on Usher syndrome. You can access a database directly by using a link below. Once connected, you can change the gene by using the "switch gene" function at the top of the page.

List of Genes

This set is curated by the Usher group from Montpellier, France. We hope that you will find it useful.

Disclaimer

This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. In preparation of this site and database, every effort has been made to offer the highest quality content. However, we make no warranty, expressed or implied, as to the accuracy of the information, in particular for the classification of the variants or its suitability for any specific purpose. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curators.

Get Involved!

Several level of users can be set up with LOVD. You may be interested in the "Submitter" level, which allows you to submit your own data. You can define them as private or not. Private data can only be seen by you (once identified) and the curator. The process is fast and easy: submitted data are checked by the curator, and once validated, are immediately available online.

Contacts

Several level of users can be set up with LOVD. You may be interested in the "Submitter" level, which allows you to submit your own data. You can define them as private or not. Private data can only be seen by you (once identified) and the curator. The process is fast and easy: submitted data are checked by the curator, and once validated, are immediately available online.

Anne-Françoise Roux
David Baux

Overview

Usher syndrome is an autosomal recessive disorder that is associated with both hearing and vision impairment. It is divided into three clinical subtypes (I, II and III) depending on the vestibular dysfunction and the degree and/or progression of hearing loss. Defects involve the cochlea and the retina. Vestibular dysfunction is observed in type I (the most severe form) and can be present in type III. More details can be found here or there.

Table 1: The different clinical types of Usher syndrome [1]
Type Deafness Vestibular dysfunction Loss of night vision Loss of visual field Frequency
USH1 Stable profound congenital None Before puberty Before puberty 33-44%
USH2 Stable or slightly progressive Mild to severe in high frequencies Normal At puberty Variable 56-67%
USH3 Progressive Variable Variable Variable 2-42%
Table 2: The different loci, genes and the encoded proteins identified in Usher syndrome. Adapted from [2-5] and genatlas.
Locus Chr. Gene Protein Function Non syndromic form
USH1B 11q13.5 MYO7A Myosin VIIa Actin-based motor protein DFNB2
DFNA11
USH1C 11p14.3 USH1C Harmonin Scaffold protein DFNB18
USH1D 10q22.3 CDH23 Cadherin 23 Cell-cell adhesion DFNB12
USH1E 21q21 -- -- -- --
USH1H 15q22-23 -- -- -- --
USH1F 10q21.1 PCDH15 Protocadherin 15 Cell-cell adhesion DFNB23
USH1G 17q25.2 USH1G SANS Scaffold protein --
USH2A 1q41 USH2A Usherin Matrix
Cell adhesion
RP39
USH2C 5q14.1 GPR98 G protein-coupled receptor 98 Cell adhesion reflex-seizure
USH2D 9q32 WHRN Whirlin Stereocilia elongation DFNB31
USH3A 3q25.1-2 USH3A Clarin 1 Cell adhesion --
Figure 1: Chromosomal localisation of the 7 common Usher genes represented In the databases. Localisation extracted from genatlas

References

  • [1] Roux, AF. Molecular Diagnostic approaches to Usher syndrome. In 'Molecular Genetic Analyses of Rare Diseases in 2007: Selected Examples'. 2007. Research Signpost. 103-120 ISBN: 81-308-0172-8.
  • [2] Petit C, Levilliers,J, Hardelin J.P. Molecular genetics of hearing loss. 2001. Annu Rev Genet 35:589-646.
  • [3] Kremer H, van Wijk E, Marker T, Wolfrum U, Roepman R. Usher syndrome: molecular links of pathogenesis, proteins and pathways. 2006. Hum Mol Genet 15 Spec No 2:R262-70.
  • [4] Reiners J, Nagel-Wolfrum K, Jurgens K, Marker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. 2006. Exp Eye Res.
  • [5] Ahmed ZM, Riazuddin S, Khan SN, Friedman PL, Riazuddin S, Friedman TB. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. Clin Genet. 2009 Jan;75(1):86-91. Epub 2008 May 25.

Support & Funding

This work was initiated thanks to a grant from SOS-rétinite and AG2R. Thanks to the LOVD team for web-hosting and technical support.