Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

GJB2 mutations in deaf population of Ilam (Western Iran): a different pattern of mutation distribution

Thu Apr 25 01:17:51 2024

(2016) GJB2 mutations in deaf population of Ilam (Western Iran): a different pattern of mutation distribution. European Archives of Oto-Rhino-Laryngology. pp. 1161-1165. ISSN 0937-4477

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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.

Item Type: Article
Keywords: GJB2 mutations Ilam population R32H mutation Hearing loss syndromic hearing-loss carrier frequency 35delg mutation gene families w24x Otorhinolaryngology
Page Range: pp. 1161-1165
Journal or Publication Title: European Archives of Oto-Rhino-Laryngology
Journal Index: ISI
Volume: 273
Number: 5
Identification Number:
ISSN: 0937-4477
Depositing User: مهندس مهدی شریفی

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