Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.
Eur J Hum Genet
; 9(5): 385-7, 2001 May.
Article
em En
| MEDLINE
| ID: mdl-11378827
ABSTRACT
Several mtDNA mutations have been reported in families with both syndromic and non-syndromic hearing loss. One such mutation is the heteroplasmic 7472insC in the tRNA(Ser(UCN)) gene which has been found in six families, all from Western Europe. However, it was not clear if this distribution was due to a common founder effect or chance sampling of several unrelated families, the 7472insC mutation having occurred multiple times. Haplotype analysis of all six families supports the latter notion. This confirms the pathogenicity of the 7472insC mutation and suggests it may exist in other populations where it may prove to be a small but significant cause of hearing loss, particularly when neurological symptoms are also present.
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Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
RNA de Transferência de Serina
/
Perda Auditiva Neurossensorial
/
Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article