Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss |
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| Authors: | Majida Charif Amina Bakhchane Omar Abidi Redouane Boulouiz Abdelmajid Eloualid Rachida Roky Hassan Rouba Mostafa Kandil Guy Lenaers Abdelhamid Barakat |
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| Affiliation: | 1. Laboratoire de Génétique Moléculaire et Humaine, Département de Recherche Scientifique, Institut Pasteur du Maroc, 20100 Casablanca, Morocco;2. Laboratoire des Sciences Anthropogénétiques et Pathologiques, Faculté des Sciences, El Jadida, Morocco;3. Institut des Neurosciences de Montpellier, Université Montpellier Sud de France, U1051, CHU St Eloi, 80 rue Augustin Fliche, BP 74103 Montpellier cedex 5, France;4. University of Hassan II Ain Chock, Laboratory of Physiology and Molecular Genetics, Km 8 Route d''El Jadida, Casablanca 20100, Morocco |
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| Abstract: | ![]()
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. |
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| Keywords: | CLDN14, Claudin 14 DFNB29, Autosomal Recessive Deafness 29 GJB2, Gap Junction β2 GJB6, Gap Junction β6 GJB3, Gap Junction β3 LRTOMT, Leucine Rich Transmembrane and 0-Methyltransferase Domain Containing NSHL, Non Syndromic Hearing Loss SNP, Single Nucleotide Polymorphism T4M, Threonine to Methionine at Position 4 |
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