Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.
Ann Otol Rhinol Laryngol
; 120(6): 414-21, 2011 Jun.
Article
em En
| MEDLINE
| ID: mdl-21774451
ABSTRACT
OBJECTIVES:
We studied the clinical characteristics of an Australian family with an autosomal dominant sensorineural hearing impairment (DFNA9) caused by an I109N mutation in COCH.METHODS:
Retrospective analyses of audiometric data from 8 mutation carriers of an Australian DFNA9 family with the I109N COCH mutation were performed. Cross-sectional hearing levels related to age, age-related typical audiograms, and speech recognition scores related to age and to the level of hearing impairment were investigated. Data were compared to those obtained in previously identified DFNA9 families with P51S, V66G, G87W, G88E, I109T, and C542F COCH mutations.RESULTS:
Deterioration of hearing in the I109N mutation carriers started before the age of 40 years. The audiometric characteristics of the I109N mutation carriers are essentially similar to those previously established in I109T mutation carriers and, to a lesser extent, in P51S, G87W, and G88E mutation carriers.CONCLUSIONS:
The phenotype associated with the I109N COCH mutation is largely similar to that associated with the I109T, P51S, G87W, and G88E mutation carriers. However, subtle differences seem to exist in terms of age of onset and rate of progression.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Observational_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
/
Male
País/Região como assunto:
Oceania
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article