Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss
Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss
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DOI：
10.1016/j.ejmg.2016.05.002
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发表时间：
2016-06-01
影响因子：
1.9
通讯作者：
Barakat, Abdelhamid
中科院分区：
文献类型：
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作者：
Bakhchane, Amina;Bousfiha, Amale;Barakat, Abdelhamid
耳聋是人类最常见的遗传病之一，具有重要的遗传异质性。非综合征性听力损失(NSHL)最常见的原因是GJB2基因突变。本研究旨在更新和评估152个摩洛哥非综合征性耳聋多基因家系的GJB2等位基因变异谱。检测到7种不同的突变：c.35delG、p.V37I、p.E47X、p.G200R、p.Del120E、p.R75Q，后三种突变在摩洛哥耳聋患者中是首次报道，此外还有一种新的无义突变c.385G>；T，该突变未在任何数据库中被引用。66个家系(43.42%)存在GJB2编码区突变，而纯合子c.35delG突变迄今仍占最多的51/152(33.55%)。对GJB2基因突变的地理分布分析表明，摩洛哥北部和中部的等位基因异质性高于摩洛哥南部。我们的结果表明，GJB2基因是摩洛哥非综合征性听力损失的主要因素。因此，摩洛哥各地GJB2突变谱的报道对建立合适的分子诊断具有重要意义。(C)2016年爱思唯尔·马森SAS。版权所有。
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. (C) 2016 Elsevier Masson SAS. All rights reserved.