Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine

2006 Edition
| Editors: Detlev Ganten, Klaus Ruckpaul, Walter Birchmeier, Jörg T. Epplen, Klaus Genser, Manfred Gossen, Birgit Kersten, Hans Lehrach, Hartmut Oschkinat, Patrizia Ruiz, Peter Schmieder, Erich Wanker, Christiane Nolte

Nonsyndromal/Nonsyndromic Deafness

Reference work entry
DOI: https://doi.org/10.1007/3-540-29623-9_8027

Definition

Nonsyndromic/nonsyndromal deafness is a hereditary autosomal hearing loss that is not associated with other signs and symptoms. (In contrast, “syndromic deafness” includes forms of hearing loss that are part of genetic syndromes which also affect other parts of the body.) The different types of nonsyndromic deafness are named according to their inheritance patterns. More than 30 genes that, when mutated, can cause nonsyndromic deafness. One form is caused by mutations in the gene GJB2 that encodes for  connexin 26, which is expressed in the cochlear and vestibular regions of the ear.

 Intermediate Filaments

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© Springer-Verlag 2005