Genetics of hearing - what's new?

被引：0

作者：

Szyfter, Krzysztof ^{[1
,2
]}

Rydzanicz, Malgorzata ^{[1
,3
]}

Gawecki, Wojciech ^{[1
,4
]}

Wrobel, Maciej ^{[1
,4
]}

Szyfter-Harris, Joanna ^{[1
,5
]}

机构：

[1] Inst Genet Czlowieka PAN Poznaniu, Ul Strzeszynska 32, PL-60479 Poznan, Poland

[2] Uniwersytetu Med Poznaniu, Katedra Audiol & Foniatrii, Poznan, Poland

[3] Uniwersytetu Med Warszawie, Katedra Genet Med, Warsaw, Poland

[4] Uniwersytetu Med Poznaniu, Katedra Otolaryngol & Onkol Laryngol, Poznan, Poland

[5] Uniwersytetu Med Poznaniu, Katedra Dermatol, Poznan, Poland

来源：

POSTEPY W CHIRURGII GLOWY I SZYI-ADVANCES IN HEAD AND NECK SURGERY | 2015年 / 14卷 / 02期

关键词：

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

D O I：

暂无

中图分类号：

R61 [外科手术学];

学科分类号：

摘要：

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.

引用

页码：25 / 31

页数：7

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