A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family

Amina Bakhchane , Hicham Charoute , Halima Nahili , Rachida Roky , Hassan Rouba , Majida Charif , Guy Lenaers (1) , Abdelhamid Barakat

1 BNMI - Biologie Neurovasculaire et Mitochondriale Intégrée

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.

Mots clés: hearing loss; Morocco; TMC1; Mutation; Whole exome sequencing

Domaines: Sciences du Vivant [q-bio]

Amina Bakhchane, Hicham Charoute, Halima Nahili, Rachida Roky, Hassan Rouba, et al.. A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family. Gene, 2015, 574 (1), pp.28-33. ⟨10.1016/j.gene.2015.07.075⟩. ⟨hal-01392229⟩