Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.
SourceAudiology and Neuro-Otology, 11, 5, (2006), pp. 269-275
Article / Letter to editor
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Audiology and Neuro-Otology
SubjectDCN 1: Perception and Action; DCN 2: Functional Neurogenomics; UMCN 5.1: Genetic defects of metabolism; UMCN 5.1: Genetic defects of metabolism
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.
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