Article
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
American journal of medical genetics. Part A - 1 May 2011
Bazazzadegan Niloofar, Sheffield Abraham M, Sobhani Masoomeh, Kahrizi Kimia, Meyer Nicole C, Van Camp Guy, Hilgert Nele, Abedini Seyedeh Sedigheh, Habibi Farkhondeh, Daneshi Ahmad, Nishimura Carla, Avenarius Matthew R, Farhadi Mohammad, Smith Richard J H, Najmabadi Hossein
Abstract excerpt
Mutations in GJB2, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNA3 and DFNB1 loci, respectively. Most of the over 100 described GJB2 mutations cause ARNSHL. Only a minority has been associated with autosomal dominant hearing loss. In this study, we present two families with autosomal dominant nonsyndromic hearing loss caused by a...
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