Autosomal dominant midfrequency hearing impairment

Scandinavian Audiology. Supplementum
R KaksonenJ Kere

Abstract

At present, 48 different gene loci have been localised and nine gene mutations have been characterised for non-syndromic hearing impairment. We have identified a large five-generation family with mid-and high-frequency hearing impairment. Family members were considered to be affected only if they had bilateral sensorineural hearing loss below the 90th percentile of an age and sex-dependent control audiometric curve of ISO class B. The inheritance of hearing impairment was autosomal dominant. Of seven affected individuals, six were females and one was male. The hearing loss among affected family members was bilateral, sensorineural and varies from mild to moderate. The type of audiogram was U-shaped. Genetic linkage studies are in progress and our preliminary data show exclusion in chromosome 6, chromosome 11 and chromosome 19 in already known loci for midfrequency hearing impairment. This means, we are mapping a novel locus for autosomal dominant midfrequency hearing impairment.

References

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Citations

Jul 31, 2008·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Fayez BahmadSaumil N Merchant

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