Profile of Iranian GJB2 Mutations in Young Population with Novel Mutation

Falah, Masoumeh and Houshmand, Massoud and Akbaroghli, Susan and Mahmodian, Saeid and Ghavami, Yaser and Farhadi, Mohammad (2011) Profile of Iranian GJB2 Mutations in Young Population with Novel Mutation. Iranian Journal of Basic Medical Sciences, 14 (3). pp. 213-218.

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Abstract

Objective(s) Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old. Materials and Methods Patients were tested with direct sequencing of entire coding region of the GJB2 gene. Results Eight known mutations plus one novel (358delGAG) were found in 25 of study group. The 35delG mutation (64) constituted the majority of GJB2 mutations. Conclusion Role of GJB2 mutation in Iranian young deaf population is more prominent than previous study that can be a result of higher consanguine marriage in population. But our result shows that there is only 25 non- syndromic hearing loss due to high frequency of consanguine marriage in Iranian population. Identification of other genes involved in genetic deafness will help us understand the fundamental mechanisms of normal hearing, both in early diagnosis and therapy.

Item Type: Article
Subjects: QT physiology
Divisions: Journals > Iranian J Basic Medical Sciences
Depositing User: ijbms ijbms
Date Deposited: 12 Dec 2017 18:52
Last Modified: 12 Dec 2017 18:52
URI: http://eprints.mums.ac.ir/id/eprint/8605

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