title: GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.
abstract: Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for approximately 85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that encodes the gap junction protein connexin 26 (Cx26). This study investigates the contribution of GJB2 to the autosomal recessive non-syndromic deafness (ARNSD) load in the Iranian population. One hundred sixty eight persons from 83 families were studied. GJB2-related deafness was diagnosed in 9 families (4, 35delG homozygotes; 3, 35delG compound heterozygotes; 1, W24X homozygote; 1, non-35delG compound heterozygote). The carrier frequency of the 35delG allele in this population was approximately 1% (1/83). Because the relative frequency of Cx26 mutations is much less than in the other populations, it is possible that mutations in other genes play a major role in ARNSD in Iran.
authors.affiliation: Genetic Research Center, Welfare Science & Rehabilitation University, Tehran, Iran. Hnajm@mavara.com
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.forename: Robert A
authors.initials: RA
authors.lastname: Cucci
authors.forename: Solmaz
authors.initials: S
authors.lastname: Sahebjam
authors.forename: Nafiseh
authors.initials: N
authors.lastname: Kouchakian
authors.forename: Mohammad
authors.initials: M
authors.lastname: Farhadi
authors.forename: Kimia
authors.initials: K
authors.lastname: Kahrizi
authors.forename: Sanaz
authors.initials: S
authors.lastname: Arzhangi
authors.forename: Naiimeh
authors.initials: N
authors.lastname: Daneshmandan
authors.forename: Khalil
authors.initials: K
authors.lastname: Javan
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006580:Genetic Carrier Screening / Q000379:methods; D005820:Genetic Testing / Q000379:methods; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D007492:Iran / Q000453:epidemiology; D009154:Mutation / Q000235:genetics*; D013577:Syndrome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26