Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss

被引：9

作者：

Charif, Majida ^{[1
]}

Bakhchane, Amina ^{[1
]}

Abidi, Omar ^{[1
]}

Boulouiz, Redouane ^{[1
]}

Eloualid, Abdelmajid ^{[1
]}

Roky, Rachida ^{[4
]}

Rouba, Hassan ^{[1
]}

Kandil, Mostafa ^{[2
]}

Lenaers, Guy ^{[3
]}

Barakat, Abdelhamid ^{[1
]}

机构：

[1] Inst Pasteur Maroc, Dept Rech Sci, Lab Genet Mol & Humaine, Casablanca 20360, Morocco

[2] Fac Sci, Lab Sci Anthropogenet & Pathol, El Jadida, Morocco

[3] Univ Montpellier Sud France, Inst Neurosci Montpellier, CHU Eloi, U1051, F-74103 Montpellier 5, France

[4] Univ Hassan II Ain Chock, Lab Physiol & Mol Genet, Casablanca 20100, Morocco

来源：

GENE | 2013年 / 523卷 / 01期

关键词：

Hearing loss; CLDN14; gene; Polymorphism; Moroccan population; TIGHT JUNCTIONS; MUTATIONS; FAMILIES; GAP;

D O I：

10.1016/j.gene.2013.03.123

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Mutations in the CLDN14 gene, encoding the tight junction claudin 14 protein has been reported to date in an autosomal recessive form of isolated hearing loss DFNB29. In order to identify the contribution of CLDN14 to inherited deafness in Moroccan population, we performed a genetic analysis of this gene in 80 Moroccan familial cases. Our results show the presence of 7 mutations: 6 being conservative and one leading to a missense mutation (C11T) which was found at heterozygous and homozygous states, with a general frequency of 6.87%. The pathogenicity of the resulting T4M substitution is under discussion. Finally, our study suggests that CLDN14 gene can be implicated in the development of hearing loss in the Moroccan population. (C) 2013 Elsevier B.V. All rights reserved.

引用

页码：103 / 105

页数：3

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