title: Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss.
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. Finally, our study suggests that CLDN14 gene can be implicated in the development of hearing loss in the Moroccan population.
authors.affiliation: Laboratoire de Génétique Moléculaire et Humaine, Département de Recherche Scientifique, Institut Pasteur du Maroc, 20100 Casablanca, Morocco.
authors.forename: Majida
authors.initials: M
authors.lastname: Charif
authors.forename: Amina
authors.initials: A
authors.lastname: Bakhchane
authors.forename: Omar
authors.initials: O
authors.lastname: Abidi
authors.forename: Redouane
authors.initials: R
authors.lastname: Boulouiz
authors.forename: Abdelmajid
authors.initials: A
authors.lastname: Eloualid
authors.forename: Rachida
authors.initials: R
authors.lastname: Roky
authors.forename: Hassan
authors.initials: H
authors.lastname: Rouba
authors.forename: Mostafa
authors.initials: M
authors.lastname: Kandil
authors.forename: Guy
authors.initials: G
authors.lastname: Lenaers
authors.forename: Abdelhamid
authors.initials: A
authors.lastname: Barakat
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D016022:Case-Control Studies; D057167:Claudins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009018:Morocco; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: D057167:Claudins; C422064:claudin 14