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An Update of Spectrum and Frequency of Gjb2 Mutations Causing Hearing Loss in the South of Iran: A Literature Review Publisher Pubmed



Koohiyan M1 ; Ahmadi A2 ; Koohian F3 ; Aghaei S4 ; Amiri B5 ; Hashemzadehchaleshtori M5
Authors

Source: International Journal of Pediatric Otorhinolaryngology Published:2019


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. © 2019
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