A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family
| Contribuinte(s) |
Biologie Neurovasculaire et Mitochondriale Intégrée ; Université d'Angers (UA) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS) |
|---|---|
| Data(s) |
2015
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| Resumo |
International audience <p>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.</p> |
| Identificador |
hal-01392229 https://hal.archives-ouvertes.fr/hal-01392229 DOI : 10.1016/j.gene.2015.07.075 OKINA : ua14263 |
| Idioma(s) |
en |
| Publicador |
HAL CCSD |
| Relação |
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gene.2015.07.075 |
| Fonte |
ISSN: 1879-0038 Gene https://hal.archives-ouvertes.fr/hal-01392229 Gene, 2015, 574 (1), pp.28-33. <http://www.sciencedirect.com/science/article/pii/S0378111915009166>. <10.1016/j.gene.2015.07.075> http://www.sciencedirect.com/science/article/pii/S0378111915009166 |
| Palavras-Chave | #Whole exome sequencing #hearing loss #Morocco #TMC1 #Mutation #[SDV] Life Sciences [q-bio] |
| Tipo |
info:eu-repo/semantics/article Journal articles |
