Prevalence of GJB2 (CX26) Gene Mutations in South Iranian Patients with Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss

Overview

Journal Mol Biol Rep

Specialty Molecular Biology

Date 2012 Oct 18

PMID 23073770

Citations 7

Authors

Seyed Basir Hashemi

Mohamad Javad Ashraf

Mohamad Saboori

Negar Azarpira

Masumeh Darai

Affiliations

Soon will be listed here.

Abstract

Hereditary hearing loss is a genetically heterogeneous disorder. Mutations in connexin 26 (CX26), are a major cause in many countries and are largely dependent on ethnic groups. The purpose of our study was to evaluate the prevalence of GJB2 mutations among affected individuals from south of Iran. Fifty patients presenting with autosomal recessive non-syndromic hearing loss from Fars, province in south of Iran, were studied for mutations in GJB2 gene and screened by direct sequencing. Mutations were detected in 15 out of 50 patients (30 %). Eight different mutations were identified; six of them were previously identified (35delG, V27I M34V, V153I, A149T, V198M). The remaining two alleles, L28I and N169T, were novel variants. The most common mutations were 35delG followed by V153I with an allele frequency of 7 and 6 %, respectively. In this study, 30 % of our subjects were found to have the causative variants or polymorphisms in GJB2 and the c.35delG mutation was the most common cause in our patients. However, more study with larger sample size as well as in vitro functional study for these new variants in Xenopus oocytes is required.

Citing Articles

Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China.

Bian P, Xu B, Zhao X, Zhu Y, Chen C, Chen X Inquiry. 2022; 59:469580211055571.

PMID: 35212567 PMC: 8891923. DOI: 10.1177/00469580211055571.

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.

Abbaspour Rodbaneh E, Panahi M, Rahimi B, Mokabber H, Farajollahi R, Davarnia B J Clin Lab Anal. 2021; 35(11):e24024.

PMID: 34581455 PMC: 8605150. DOI: 10.1002/jcla.24024.

Identification of homozygous mutations for hearing loss.

Dianatpour M, Smith E, Hashemi S, Farazifard M, Nezafat N, Razban V Gene. 2021; 778:145464.

PMID: 33524517 PMC: 7987747. DOI: 10.1016/j.gene.2021.145464.

Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations.

Koohiyan M, Azadegan-Dehkordi F, Koohian F, Hashemzadeh-Chaleshtori M J Audiol Otol. 2019; 23(4):175-180.

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Genetics of hereditary hearing loss in east Iran population: A systematic review of mutations.

Koohiyan M, Azadegan-Dehkordi F, Koohian F, Abolhasani M, Hashemzadeh-Chaleshtori M Intractable Rare Dis Res. 2019; 8(3):172-178.

PMID: 31523594 PMC: 6743427. DOI: 10.5582/irdr.2019.01070.

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