title: A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.
abstract: Autosomal recessive non-syndromic hearing loss (ARNSHL) is one of the most common genetic diseases in human and is subject to important genetic heterogeneity, rendering molecular diagnosis difficult. Whole-exome sequencing is thus a powerful strategy for this purpose. After excluding GJB2 mutation and other common mutations associated with hearing loss in Morocco, whole-exome sequencing was performed to study the genetic causes of one sibling with ARSHNL in a consanguineous Moroccan family. After filtering data and Sanger sequencing validation, one novel pathogenic homozygous mutation c.1810C>G (p.Arg604Gly) was identified in TMC1, a gene reported to cause deafness in various populations. Thus, we identified here the first mutation in the TMC1 gene in the Moroccan population causing non-syndromic hearing loss.
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Département de Recherche Scientifique, Institut Pasteur du Maroc, Casablanca, Morocco.
authors.forename: Amina
authors.initials: A
authors.lastname: Bakhchane
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Département de Recherche Scientifique, Institut Pasteur du Maroc, Casablanca, Morocco.
authors.forename: Hicham
authors.initials: H
authors.lastname: Charoute
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Département de Recherche Scientifique, Institut Pasteur du Maroc, Casablanca, Morocco.
authors.forename: Halima
authors.initials: H
authors.lastname: Nahili
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: Laboratoire de Génétique Moléculaire Humaine, Département de Recherche Scientifique, Institut Pasteur du Maroc, Casablanca, Morocco.
authors.forename: Hassan
authors.initials: H
authors.lastname: Rouba
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Département de Recherche Scientifique, Institut Pasteur du Maroc, Casablanca, Morocco; Institut des Neurosciences de Montpellier, U1051 de l'INSERM, Université de Montpellier I et II, BP 74103, 34091 Montpellier cedex 05, France; PREMMi, Université d'Angers, CHU Bât IRIS/IBS, Rue des Capucins, 49933 Angers cedex 9, France.
authors.forename: Majida
authors.initials: M
authors.lastname: Charif
authors.affiliation: Institut des Neurosciences de Montpellier, U1051 de l'INSERM, Université de Montpellier I et II, BP 74103, 34091 Montpellier cedex 05, France; PREMMi, Université d'Angers, CHU Bât IRIS/IBS, Rue des Capucins, 49933 Angers cedex 9, France.
authors.forename: Guy
authors.initials: G
authors.lastname: Lenaers
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Département de Recherche Scientifique, Institut Pasteur du Maroc, Casablanca, Morocco. Electronic address: hamid.barakat@pasteur.ma.
authors.forename: Abdelhamid
authors.initials: A
authors.lastname: Barakat
mesh_terms: D000072259:Connexin 26; D017630:Connexins; D003638:Deafness / Q000235:genetics; D059472:Exome / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D034381:Hearing Loss / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009018:Morocco; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D008565:Membrane Proteins; C451751:TMC1 protein, human; D000072259:Connexin 26
keywords: Hearing loss; Morocco; Mutation; TMC1; Whole exome sequencing