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
in 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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
DNA, Mitochondrial
/
RNA, Transfer, Ser
/
Hearing Loss, Sensorineural
/
Mutation
Type of study:
Risk_factors_studies
Limits:
Humans
Country/Region as subject:
Europa
Language:
En
Journal:
Eur J Hum Genet
Journal subject:
GENETICA MEDICA
Year:
2001
Document type:
Article
Affiliation country:
Country of publication:
ENGLAND
/
ESCOCIA
/
GB
/
GREAT BRITAIN
/
INGLATERRA
/
REINO UNIDO
/
SCOTLAND
/
UK
/
UNITED KINGDOM