Dataset Information

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

ABSTRACT: 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 novel mutation in GJB2 (p.Asp46Asn). Both families were ascertained from the same village in northern Iran consistent with a founder effect. This finding implicates the D46N missense mutation in Cx26 as a common cause of deafness in this part of Iran mandating mutation screening of GJB2 for D46N in all persons with hearing loss who originate from this geographic region.

SUBMITTER: Bazazzadegan N

PROVIDER: S-EPMC3080436 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature

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Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

Bazazzadegan Niloofar N Sheffield Abraham M AM Sobhani Masoomeh M Kahrizi Kimia K Meyer Nicole C NC Van Camp Guy G Hilgert Nele N Abedini Seyedeh Sedigheh SS Habibi Farkhondeh F Daneshi Ahmad A Nishimura Carla C Avenarius Matthew R MR Farhadi Mohammad M Smith Richard J H RJ Najmabadi Hossein H

American journal of medical genetics. Part A 20110411 5

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 novel mutation in GJB2 (p.Asp46Asn). Both families were ascertained from the same vil ...[more]

PMID: 21484990

Dataset Information

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

Publications

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

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