Back to Search
Start Over
A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.
- Source :
-
Gene . Dec2015, Vol. 574 Issue 1, p28-33. 6p. - Publication Year :
- 2015
-
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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 03781119
- Volume :
- 574
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Gene
- Publication Type :
- Academic Journal
- Accession number :
- 110252900
- Full Text :
- https://doi.org/10.1016/j.gene.2015.07.075