eISSN: 2084-9842
ISSN: 1643-9279
Postępy w chirurgii głowy i szyi/Advances in Head and Neck Surgery
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2/2015
vol. 14
 
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abstract:

Genetics of hearing – what’s new?

Krzysztof Szyfter
,
Małgorzata Rydzanicz
,
Wojciech Gawęcki
,
Maciej Wróbel
,
Joanna Szyfter-Harris

Online publish date: 2015/12/23
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Hearing loss is having a complex etiology with a considerable impact of genetic factor. Narrowing the field to genetics a background still remains heterogenous as over 100 loci and 60 genes associated with hearing loss were already identified. The same is applicable for mutation patters in particular genes with several mutation having a variable impact. However, besides the mentioned genetic heterogeneity the 35del5 mutation of GJB2 gene coding connexin 24 is being found in more than a halve of the studied case. A knowledge seems to be sufficient enough to provide genetic counseling concerning hearing loss.
keywords:

inborn hearing loss, gene identification, gene mutations, genetic counseling
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