An update of spectrum and frequency of GJB2 mutations causing hearing loss in the south of Iran: A literature review.

Abstract:

OBJECTIVE:Mutations in the GJB2 gene are a major cause of autosomal recessive non-syndromic HL (ARNSHL) in many populations. Previous studies have estimated the average frequency of GJB2 mutations to be between 16 and 18% in Iran, but would vary among different ethnic groups. Here, we have taken together and reviewed results from our three previous publications and data from search other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in the south of Iran. METHODS:In all, 447 unrelated families were included and analyzed for the prevalence and type of the GJB2 gene mutations. RESULTS:Totally, the frequency of GJB2 mutations was found to be 11.5% in the southern provinces studied which is significantly lower than that identified in Northern populations of Iran, and also a southwest to southeast Iranian gradient in the frequency of GJB2 mutations is suggested. CONCLUSIONS:This study highlights the importance of establishing prevalence, based on the local population for screening and diagnostic programs of live births in Iran.

authors

Koohiyan M,Ahmadi A,Koohian F,Aghaei S,Amiri B,Hashemzadeh-Chaleshtori M

doi

10.1016/j.ijporl.2019.01.036

subject

Has Abstract

pub_date

2019-04-01 00:00:00

pages

136-140

eissn

0165-5876

issn

1872-8464

pii

S0165-5876(19)30047-3

journal_volume

119

pub_type

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