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

作者：Bakhchane Amina; Charoute Hicham; Nahili Halima; Roky Rachida; Rouba Hassan; Charif Majida; Lenaers Guy; Barakat Abdelhamid^*

来源：Gene, 2015, 574(1): 28-33.

DOI：10.1016/j.gene.2015.07.075

• Hearing loss
• TMC1
• Mutation
• Whole exome sequencing
• Morocco

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.

• 出版日期2015-12-10