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 ∼0.5 dB/year at 1-2 kHz after correction for presbycusis. Copyright

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doi.org/10.1159/000093525, hdl.handle.net/1765/61515
Audiology and Neurotology
Erasmus MC: University Medical Center Rotterdam

Santos, R.L.P, Häfner, F.M, Huygen, P.L.M, Linder, F, Schinzel, A.A, Spillmann, T, & Leal, S.M. (2006). Phenotypic characterization of DFNA24: Prelingual progressive sensorineural hearing impairment. Audiology and Neurotology, 11(5), 269–275. doi:10.1159/000093525