Genetic heterogeneity in Usher syndrome
Version of Record online: 22 APR 2004
Copyright © 2004 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 130A, Issue 1, pages 13–16, 15 September 2004
How to Cite
Keats, B. J.B. and Savas, S. (2004), Genetic heterogeneity in Usher syndrome. Am. J. Med. Genet., 130A: 13–16. doi: 10.1002/ajmg.a.30052
- Issue online: 23 AUG 2004
- Version of Record online: 22 APR 2004
- Manuscript Accepted: 10 NOV 2003
- Manuscript Received: 10 OCT 2003
- Foundation Fighting Blindness
- sensorineural hearing loss;
- retinitis pigmentosa;
Mutations in seven different genes have been associated with Usher syndrome, and an additional four loci have been mapped. The identified genes encode myosin VIIa, harmonin (a PDZ-domain protein), cadherin 23, protocadherin 15, sans (a scaffold-like protein), usherin and clarin. Three clinical types of Usher syndrome have been described: USH1 patients have severe to profound congenital hearing loss, vestibular dysfunction, and retinal degeneration beginning in childhood, those with USH2 have moderate to severe congenital hearing loss, normal vestibular function, and later onset of retinitis pigmentosa, and USH3 patients have progressive hearing loss, which distinguishes them from the other two types. The shaker-1, waltzer, Ames waltzer, and Jackson shaker mice provide murine models for four of the genetic forms of Usher syndrome. Ongoing studies are enabling early diagnosis of Usher syndrome in children who present with hearing loss, thus providing time to prepare for the onset of visual loss. © 2004 Wiley-Liss, Inc.