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
收藏
页码：25 / 31
页数：7
相关论文
共 50 条
  • [31] WHAT'S HAPPENING Neurology® Genetics
    不详
    NEUROLOGY, 2020, 94 (23) : 1026 - 1026
  • [32] What's happening in Neurology® Genetics
    不详
    NEUROLOGY, 2019, 92 (19) : 894 - 894
  • [33] WHAT'S HAPPENING Neurology Genetics
    不详
    NEUROLOGY, 2020, 94 (07) : 305 - 305
  • [34] What's happening in Neurology® Genetics
    不详
    NEUROLOGY, 2019, 92 (03) : 133 - 133
  • [35] HEARING LOSS: WHAT'S IN THE PIPELINE?
    Chen, C.
    Lobarinas, E.
    Ding, D.
    Salvi, R.
    DRUGS OF THE FUTURE, 2011, 36 (03) : 209 - 227
  • [36] What's happening in Neurology® Genetics
    不详
    NEUROLOGY, 2020, 95 (03) : 118 - 118
  • [37] The genetics of alopecia areata: What's new and how will it help our patients?
    Petukhova, Lynn
    Cabral, Rita M.
    Mackay-Wiggan, Julian
    Clynes, Raphael
    Christiano, Angela M.
    DERMATOLOGIC THERAPY, 2011, 24 (03) : 326 - 336
  • [38] Heritability: What's the point? What is it not for? A human genetics perspective
    Robette, Nicolas
    Genin, Emmanuelle
    Clerget-Darpoux, Francoise
    GENETICA, 2022, 150 (3-4) : 199 - 208
  • [39] Heritability: What's the point? What is it not for? A human genetics perspective
    Nicolas Robette
    Emmanuelle Génin
    Françoise Clerget-Darpoux
    Genetica, 2022, 150 : 199 - 208
  • [40] Genetics and hearing impairment
    Mahshie, J
    FOLIA PHONIATRICA ET LOGOPAEDICA, 1998, 50 (04) : 226 - 227
12345