The molecular genetics of Usher syndrome

Clin Genet. 2003 Jun;63(6):431-44. doi: 10.1034/j.1399-0004.2003.00109.x.


Association of sensorineural deafness and progressive retinitis pigmentosa with and without a vestibular abnormality is the hallmark of Usher syndrome and involves at least 12 loci among three different clinical subtypes. Genes identified for the more commonly inherited loci are USH2A (encoding usherin), MYO7A (encoding myosin VIIa), CDH23 (encoding cadherin 23), PCDH15 (encoding protocadherin 15), USH1C (encoding harmonin), USH3A (encoding clarin 1), and USH1G (encoding SANS). Transcripts from all these genes are found in many tissues/cell types other than the inner ear and retina, but all are uniquely critical for retinal and cochlear cell function. Many of these protein products have been demonstrated to have direct interactions with each other and perform an essential role in stereocilia homeostasis.

Publication types

  • Review

MeSH terms

  • Animals
  • Extracellular Matrix Proteins / genetics
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Membrane Proteins / genetics
  • Mice
  • Nerve Tissue Proteins / genetics
  • Retinitis Pigmentosa / genetics*
  • Vestibule, Labyrinth / abnormalities


  • CLRN1 protein, human
  • Clrn1 protein, mouse
  • Extracellular Matrix Proteins
  • Membrane Proteins
  • Nerve Tissue Proteins
  • USH1G protein, human
  • USH2A protein, human
  • Ush2a protein, mouse