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80th Annual Meeting of the German Society of Oto-Rhino-Laryngology, Head and Neck Surgery

German Society of Oto-Rhino-Laryngology, Head and Neck Surgery

20.05. - 24.05.2009, Rostock

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Localisation of a novel autosomal dominant non-syndromic hearing impairment on chromosome 20

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  • corresponding author Julia Diana Dahm - HNO-Klinik, Duisburg, Germany
  • Manuela Baur - HNO-Klinik, Tübingen, Germany
  • Hans-Peter Zenner - HNO-Klinik, Tübingen, Germany
  • Markus Pfister - HNO-Klinik, Tübingen, Germany

German Society of Oto-Rhino-Laryngology, Head and Neck Surgery. 80th Annual Meeting of the German Society of Oto-Rhino-Laryngology, Head and Neck Surgery. Rostock, 20.-24.05.2009. Düsseldorf: German Medical Science GMS Publishing House; 2009. Doc09hno027

doi: 10.3205/09hno027, urn:nbn:de:0183-09hno0277

Published: July 22, 2009

© 2009 Dahm et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en). You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.

Outline

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Introduction: Hearing loss is one of the most frequent sensory deficits in human. A considerable part is based on genetic defects eg mutations in functional relevant genes of the inner ear. Finding the relevant genes can be greatly facilitated by the investigation of affected families with hearing loss.

Methods: Over the last three years we studied one family with hereditary hearing loss. To identify correct phenotypes it is vital to take precise case histories and perform appropriate audiometric measures. For DNA assays we extracted blood or used the patients' oral mucosa swipes.

Results: In the family comprising three generations we were able to identify a dominant autosomal inherited sensorineural, progressive non-syndromic form of hearing impairment in 22 out of 33 family members. With advancing age these patients demonstrated the typical progressive hearing loss of 2 kHz. By genechip whole genome analysis a sigificant co-segregation of the familial hearing loss to chromosome 20 (D20S480) was identified.

Conclusions: Currently, we are searching potential candidate genes in this area and perform mutation analysis in order to elucidate the underlying pathomechanism.