title: GJB2 mutations in deaf population of Ilam (Western Iran): a different pattern of mutation distribution.
abstract: Hearing loss is the most common sensory defect caused by heterogeneous factors. Up to now, more than 60 mutations in genes have been documented for nonsyndromic hearing loss. Hence, finding the causal gene in affected families could be a laborious and time-consuming process. GJB2 mutations, here, were investigated among deaf subjects of Ilam for the first time. In this study, we studied 62 unrelated patients with non-syndromic autosomal recessive deafness from 62 families. The most common mutation of GJB2, 35delG was checked, followed by direct sequencing of the GJB2 gene for determination of other mutations. In silico analyses were also performed using available software. In nine families, mutations in the connexin 26 gene were observed. In the studied population, R32H was the most common mutation. 35delG, W24X, and R127H were other mutations found in this study. In silico analyses showed pathogenicity of 35delG, R32H, and W24X but not R127H. Low frequency of GJB2 mutations in this population is probably indicative of the fact that other genes may be involved in nonsyndromic hearing loss in Ilam populations. In the other hand, the vicinity of Ilam and Iraq suggests that GJB2 mutations have likely a low frequency in this population.
authors.affiliation: Research Laboratory, Rajaei Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Nejat
authors.initials: N
authors.lastname: Mahdieh
authors.affiliation: Student Research Committee, Ilam University of Medical Sciences, Ilam, Iran.
authors.forename: Hamdollah
authors.initials: H
authors.lastname: Mahmoudi
authors.affiliation: Student Research Committee, Ilam University of Medical Sciences, Ilam, Iran.
authors.forename: Soleiman
authors.initials: S
authors.lastname: Ahmadzadeh
authors.affiliation: Department of Clinical Biochemistry, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran. bakhtiyaribio@gmail.com.
authors.forename: Salar
authors.initials: S
authors.lastname: Bakhtiyari
mesh_terms: D000072259:Connexin 26 / Q000235:genetics; D017630:Connexins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26
keywords: GJB2 mutations; Hearing loss; Ilam population; R32H mutation