Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss

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• 作者：Amina Bakhchane^a ; ¹ ; Amale Bousfiha^a ; ¹ ; Hicham Charoute^a ; Sara Salime^a ; Mustapha Detsouli^a ; Khalid Snoussi^a ; Sellama Nadifi^b ; Mostafa Kabine^d ; Hassan Rouba^a ; Hind Dehbi^b ; Rachida Roky^c ; Majida Charif^a ; Abdelhamid Barakat^a ; ^{hamid.barakat@pasteur.ma" class="auth_mail" title="E-mail the corresponding author}
• 关键词：GJB2 ; Mutation ; Hearing loss ; Morocco
• 刊名：European Journal of Medical Genetics
• 出版年：2016
• 出版时间：June 2016
• 年：2016
• 卷：59
• 期：6-7
• 页码：325-329
• 全文大小：510 K

文摘

Deafness is one of the most common genetic diseases in humans and is subject to important genetic heterogeneity. The most common cause of non syndromic hearing loss (NSHL) is mutations in the GJB2 gene. This study aims to update and evaluate the spectrum of GJB2 allele variants in 152 Moroccan multiplex families with non syndromic hearing loss. Seven different mutations were detected: c.35delG, p.V37I, p.E47X, p.G200R, p.Del120E, p.R75Q, the last three mutations were described for the first time in Moroccan deaf patients, in addition to a novel nonsense mutation, the c.385G>T which is not referenced in any database. Sixty six families (43.42%) have mutations in the coding region of GJB2, while the homozygous c.35delG mutation still to date the most represented 51/152 (33.55%). The analysis of the geographical distribution of mutations located in GJB2 gene showed more allelic heterogeneity in the north and center compared to the south of Morocco. Our results showed that the GJB2 gene is a major contributor to non syndromic hearing loss in Morocco. Thus, this report of the GJB2 mutations spectrum all over Morocco has an important implication for establishing a suitable molecular diagnosis.