title: 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.
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Niloofar
authors.initials: N
authors.lastname: Bazazzadegan
authors.forename: Abraham M
authors.initials: AM
authors.lastname: Sheffield
authors.forename: Masoomeh
authors.initials: M
authors.lastname: Sobhani
authors.forename: Kimia
authors.initials: K
authors.lastname: Kahrizi
authors.forename: Nicole C
authors.initials: NC
authors.lastname: Meyer
authors.forename: Guy
authors.initials: G
authors.lastname: Van Camp
authors.forename: Nele
authors.initials: N
authors.lastname: Hilgert
authors.forename: Seyedeh Sedigheh
authors.initials: SS
authors.lastname: Abedini
authors.forename: Farkhondeh
authors.initials: F
authors.lastname: Habibi
authors.forename: Ahmad
authors.initials: A
authors.lastname: Daneshi
authors.forename: Carla
authors.initials: C
authors.lastname: Nishimura
authors.forename: Matthew R
authors.initials: MR
authors.lastname: Avenarius
authors.forename: Mohammad
authors.initials: M
authors.lastname: Farhadi
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005799:Genes, Dominant; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007492:Iran; D009154:Mutation
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26