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

Koohiyan, M and Ahmadi, A and Koohian, F and Aghaei, S and Amiri, B and Hashemzadeh-Chaleshtori, M (2019) An update of spectrum and frequency of GJB2 mutations causing hearing loss in the south of Iran: A literature review. Int J Pediatr Otorhinolaryngol, 25 (119).

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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

Item Type: Article
Uncontrolled Keywords: GJB2, Genetic counseling, Iranian population, Non-syndromic hearing loss
Subjects: QZ pathology-Neoplasms
WV Otolaryngology
Divisions: Faculty of Medicine > Department of Clinical Sciences > Department of Otolaryngology
Depositing User: Unnamed user with email nazari@skums.ac.ir
Date Deposited: 04 Feb 2019 07:59
Last Modified: 17 Apr 2019 03:53
URI: http://eprints.skums.ac.ir/id/eprint/7526

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