Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

Azadegan-Dehkordi, F and Bahrami, T and Shirzad, M and Karbasi, G and Yazdanpanahi, N and Farrokhi, E and Koohiyan, M and Tabatabaiefar, M and Hashemzadeh-Chaleshtori, M (2018) Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran. J Audiol Otol.

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Abstract

Background and Objectives: : Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: : Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: : A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: : Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population

Item Type: Article
Uncontrolled Keywords: Autosomal recessive non-syndromic hearing loss, Gap junction protein beta 2, Hearing loss
Subjects: WD Nutrition Disease and metabolic diseases
QZ pathology-Neoplasms
Divisions: Faculty of Medicine
Depositing User: Unnamed user with email nazari@skums.ac.ir
Date Deposited: 19 Dec 2018 04:48
Last Modified: 17 Apr 2019 10:05
URI: http://eprints.skums.ac.ir/id/eprint/7442

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