Open Access
CC BY-NC-ND 4.0 · Laryngorhinootologie 2022; 101(S 02): S249
DOI: 10.1055/s-0042-1746723
Poster
Otology / Neurootology / Audiology

Genetic evaluation in hearing impaired patients in ENT – necessary routine ?

Authors

  • Anke Lesinski-Schiedat

    1   MHH, HNO Kliinik & DHZ Hannover

  • Athanasia Warnecke

    2   MHH, HNO-Klinik & DHZ Hannover

  • Andreas Büchner

    2   MHH, HNO-Klinik & DHZ Hannover

  • Thomas Lenarz

    2   MHH, HNO-Klinik & DHZ Hannover

  • Christian Landgraf

    3   MHH, Institut für Humangenetik Hannover
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Introduction

A curative therapy for hearing impairment patients is based on diagnostic results. Most hearing loss is caused by genetic mutations. The development of genetic diagnostics in otology is a new option.

Material and method

In the clinical ambulance of a tertiary hospital 83 patient asked for a genetic diagnostic. The results were correlated with the audiological and radiological data.

Results

Within the collective in 18% cases a genetic cause was identified – GJB2/Connexin 26 is mostly found. In 46 % patients no mutations were found and in 21% variances with unclear significance.

Conclusion

Genetic diagnostic procedure can already nowadays identify many causes for hearing impairment. This diagnostic is the base to develop moleculargenetic therapy for inner ear disease. Genetic evaluation should be part of routine audiological diagnostic batteries.



Publikationsverlauf

Artikel online veröffentlicht:
24. Mai 2022

© 2022. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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