Abstract
2/2015
vol. 14
Genetics of hearing – what’s new?
Online publish date: 2015/12/23
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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