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Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.

ABSTRACT: This article describes the hearing impairment (HI) phenotype which segregates in a large multi-generation Swiss-German family with autosomal dominant nonsyndromic HI. The locus segregating within this pedigree is located on chromosome 4q35-qter and is designated as DFNA24. For this pedigree, audiometric data on 25 hearing-impaired family members are available. It was demonstrated that within this kindred the HI is sensorineural, bilateral, prelingual in onset, and progressive throughout life. Age-related typical audiograms depict steeply down-sloping curves, with moderate high-frequency HI at birth, then steady progression to moderate HI in the low frequencies, severe HI at mid-frequencies and profound HI at high frequencies by age 70. Annual threshold deterioration was approximately 0.5 dB/year at 1-2 kHz after correction for presbycusis.

SUBMITTER: Santos RL

PROVIDER: S-EPMC2923580 | biostudies-literature | 2006

REPOSITORIES: biostudies-literature

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Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.

Santos Regie Lyn P RL Häfner Franziska M FM Huygen Patrick L M PL Linder Thomas E TE Schinzel Albert A AA Spillmann Thomas T Leal Suzanne M SM

Audiology & neuro-otology 20060523 5

This article describes the hearing impairment (HI) phenotype which segregates in a large multi-generation Swiss-German family with autosomal dominant nonsyndromic HI. The locus segregating within this pedigree is located on chromosome 4q35-qter and is designated as DFNA24. For this pedigree, audiometric data on 25 hearing-impaired family members are available. It was demonstrated that within this kindred the HI is sensorineural, bilateral, prelingual in onset, and progressive throughout life. Ag ...[more]

PMID: 16717440

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