Bilateral sensorineural hearing loss in members of a maternal lineage with mitochondrial point mutation.
Clin Otolaryngol Allied Sci
; 19(4): 314-9, 1994 Aug.
Article
em En
| MEDLINE
| ID: mdl-7994888
ABSTRACT
Pure-tone audiometry was carried out on members of a recently described maternal lineage with sensorineural deafness, harbouring a novel mitochondrial mutation in the gene for tRNA-ser(UCN). This revealed a characteristic pattern of symmetrical bilateral sensorineural hearing losses in each affected individual, predominantly affecting the high-frequencies, but with considerable variability between individuals. No clear correlation was observed between age and severity, but most subjects reported progressive worsening of their condition. Some members of the lineage were found to be heteroplasmic for the tRNA-ser(UCN) mutation. However, the severity of hearing loss was poorly correlated with the representation of the mutant mtDNA, indicating that other, as yet unidentified factors must be involved in the aetiology of this disorder.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
Mutação Puntual
/
Surdez
/
Mães
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Aged
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Clin Otolaryngol Allied Sci
Ano de publicação:
1994
Tipo de documento:
Article
País de afiliação:
Reino Unido