title: Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.
abstract: 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.
authors.affiliation: Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.
authors.forename: Amina
authors.initials: A
authors.lastname: Bakhchane
authors.affiliation: Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.
authors.forename: Amale
authors.initials: A
authors.lastname: Bousfiha
authors.affiliation: Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.
authors.forename: Hicham
authors.initials: H
authors.lastname: Charoute
authors.affiliation: Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.
authors.forename: Sara
authors.initials: S
authors.lastname: Salime
authors.affiliation: Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.
authors.forename: Mustapha
authors.initials: M
authors.lastname: Detsouli
authors.affiliation: Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.
authors.forename: Khalid
authors.initials: K
authors.lastname: Snoussi
authors.affiliation: Genetics and Molecular Pathology Laboratory, Medical School of Casablanca, Casablanca, Morocco.
authors.forename: Sellama
authors.initials: S
authors.lastname: Nadifi
authors.affiliation: Laboratoire de Biochimie et Biologie Moléculaire, Université Hassan II, Faculté des Sciences Aïn Chock, Casablanca, Morocco.
authors.forename: Mostafa
authors.initials: M
authors.lastname: Kabine
authors.affiliation: Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.
authors.forename: Hassan
authors.initials: H
authors.lastname: Rouba
authors.affiliation: Genetics and Molecular Pathology Laboratory, Medical School of Casablanca, Casablanca, Morocco.
authors.forename: Hind
authors.initials: H
authors.lastname: Dehbi
authors.affiliation: Université Hassan II Ain Chock, Laboratoire de Physiologie et génétique moléculaire, Km 8 Route d'El Jadida, B.P 5366 Maarif, Casablanca, 20100, Morocco.
authors.forename: Rachida
authors.initials: R
authors.lastname: Roky
authors.affiliation: Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco.
authors.forename: Majida
authors.initials: M
authors.lastname: Charif
authors.affiliation: Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco. Electronic address: hamid.barakat@pasteur.ma.
authors.forename: Abdelhamid
authors.initials: A
authors.lastname: Barakat
mesh_terms: D000483:Alleles; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D009018:Morocco; D009154:Mutation / Q000235:genetics
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26
keywords: GJB2; Hearing loss; Morocco; Mutation