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 The aim remains identical: centralising published and unpublished genetic data on Usher syndrome.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.
This set is curated by the Usher group from Montpellier, France. We hope that you will find it useful.
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.
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.
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.
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.
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% |
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 | -- |
This work was initiated thanks to a grant from SOS-rétinite and AG2R. Thanks to the LOVD team for web-hosting and technical support.