title: Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
abstract: Autosomal recessive non-syndromic hearing impairment (ARNSHI) is the most common type of inherited hearing impairment, accounting for approximately 80% of inherited prelingual hearing impairment. Hearing loss is noted to be both phenotypically and genetically heterogeneous. Mutations in the TMPRSS3 gene, which encodes a transmembrane serine protease, are known to cause autosomal recessive non-syndromic hearing impairment DFNB8/10. In order to elucidate if the TMPRSS3 gene is responsible for ARNSHI in 80 Moroccan families with non-syndromic hearing impairment, the gene was sequenced using DNA samples from these families. Nineteen TMPRSS3 variants were found, nine are located in the exons among which six are missense and three are synonymous. The 10 remaining variations are located in non-coding regions. Missense variants analysis show that they do not have a significant pathogenic effect on protein while pathogenicity of some variant remains under discussion. Thus we show that the TMPRSS3 gene is not a major contributor to non-syndromic deafness in the Moroccan population.
authors.affiliation: Laboratoire de Génétique Moléculaire et Humaine, Département de Recherche Scientifique, Institut Pasteur du Maroc, 20360 Casablanca, Morocco.
authors.forename: Majida
authors.initials: M
authors.lastname: Charif
authors.forename: Omar
authors.initials: O
authors.lastname: Abidi
authors.forename: Redouane
authors.initials: R
authors.lastname: Boulouiz
authors.forename: Halima
authors.initials: H
authors.lastname: Nahili
authors.forename: Hassan
authors.initials: H
authors.lastname: Rouba
authors.forename: Mostafa
authors.initials: M
authors.lastname: Kandil
authors.forename: Benjamin
authors.initials: B
authors.lastname: Delprat
authors.forename: Guy
authors.initials: G
authors.lastname: Lenaers
authors.forename: Abdelhamid
authors.initials: A
authors.lastname: Barakat
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009018:Morocco; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D012697:Serine Endopeptidases / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D009363:Neoplasm Proteins; D012697:Serine Endopeptidases; C409042:TMPRSS3 protein, human