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

2011; Wiley; Volume: 155; Issue: 5 Linguagem: Inglês

10.1002/ajmg.a.33209

1552-4833

Niloofar Bazazzadegan, Abraham M. Sheffield, Masoomeh Sobhani, Kimia Kahrizi, Nicole C. Meyer, Guy Van Camp, Nele Hilgert, Seyedeh Sedigheh Abedini, Farkhondeh Habibi, Ahmad Daneshi, Carla Nishimura, Matthew R. Avenarius, Mohammad Farhadi, Richard J. Smith, Hossein Najmabadi,

Neuroscience of respiration and sleep

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. © 2011 Wiley‐Liss, Inc.