Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Biochem Biophys Res Commun
; 419(4): 643-7, 2012 Mar 23.
Article
em En
| MEDLINE
| ID: mdl-22382023
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Serina Endopeptidases
/
Perda Auditiva Neurossensorial
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Proteínas de Membrana
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Proteínas de Neoplasias
Limite:
Female
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Humans
/
Male
País/Região como assunto:
Africa
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article