Cross-sectional analysis of hearing threshold in relation to age in a large family with cochleovestibular impairment thoroughly genotyped for DFNA9/COCH.
SourceAnnals of Otology, Rhinology and Laryngology, 112, 3, (2003), pp. 280-286
Article / Letter to editor
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Annals of Otology, Rhinology and Laryngology
SubjectUMCN 3.3: Neurosensory disorders; UMCN 5.1: Genetic defects of metabolism
Hearing threshold was analyzed for each frequency in relation to age in 88 members of a large Dutch family with cochleovestibular impairment caused by a P51S mutation in the COCH gene within the DFNA9 locus (chromosome 14q12-13). The participants in this study were 34 mutation carriers and 54 relatives without the mutation (control subjects). A sigmoidal dose-response curve with a variable slope was used to fit the mutation carriers' threshold-on-age data. Progression started at about 40 years of age and only lasted for some 20 to 25 years; the associated average progression was 2.9 dB/y for all frequencies. However, some hearing impairment was already present before, predominantly at the high frequencies. The mean thresholds in the young mutation carriers (< 33 years of age) were significantly higher (by 4 to 13 dB) than those in age-matched controls at 2 to 8 kHz. Presumably, mutation carriers have a congenital, stable offset threshold (10 to 29 dB) at these frequencies, and develop progression later in life.
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