gms | German Medical Science

80. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie e. V.

Deutsche Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie e. V.

20.05. - 24.05.2009, Rostock

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

Meeting Abstract

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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: urn:nbn:de:0183-09hno0277

Veröffentlicht: 22. Juli 2009

© 2009 Dahm et al.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielfältigt, verbreitet und öffentlich zugänglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.


Gliederung

Text

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.