The genetic bases for syndromic and nonsyndromic deafness among Jews

Trends Mol Med. 2003 Nov;9(11):496-502. doi: 10.1016/j.molmed.2003.09.004.

Abstract

There are hundreds of different mutated genes associated with hearing loss. However, recent findings indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in some Jewish populations is caused by a small number of founder mutations. This review is focused on genetic disorders such as nonsyndromic deafness, Usher syndrome and Alport syndrome, in which hearing loss is a major part of the phenotype and in which the underlying prevalent founder mutations have been recently identified in different Jewish populations. These and other examples of common mutations within a distinct population allow for sensitive and specific use of genetic testing for carrier screening and diagnosis, and are an impetus for development of therapeutic strategies.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Chromosome Mapping
  • Connexin 26
  • Connexin 30
  • Connexins / genetics
  • Connexins / metabolism
  • Deafness / genetics*
  • Deafness / metabolism
  • Dyneins
  • Humans
  • Jews / genetics*
  • Myosin Heavy Chains / genetics
  • Myosin Heavy Chains / metabolism
  • Myosin VIIa
  • Myosins / genetics
  • Myosins / metabolism
  • Nephritis, Hereditary / genetics
  • Nephritis, Hereditary / metabolism

Substances

  • Connexin 30
  • Connexins
  • GJB6 protein, human
  • MYO7A protein, human
  • Myosin VIIa
  • Connexin 26
  • Myosin Heavy Chains
  • Myosins
  • Dyneins