A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3

被引：24

作者：

Fukushima, K

Kasai, N

Ueki, Y

Nishizaki, K

Sugata, K

Hirakawa, S

Masuda, A

Gunduz, M

Ninomiya, Y

Masuda, Y

Sato, M

McGuirt, WT

Coucke, P

Van Camp, G

Smith, RJH ^{[1
]}

机构：

[1] Univ Iowa, Dept Otolaryngol, Mol Otolaryngol Res Labs, Dept Otolaryngol, Iowa City, IA 52242 USA

[2] Okayama Univ, Sch Med, Dept Otolaryngol, Okayama 700, Japan

[3] Okayama Univ, Sch Med, Dept Biochem & Mol Biol, Okayama 700, Japan

[4] Univ Antwerp, Dept Med Genet, B-2020 Antwerp, Belgium

[5] Keio Univ, Dept Otolaryngol, Tokyo, Japan

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 65卷 / 01期

关键词：

D O I：

10.1086/302461

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The sixteenth gene to cause autosomal dominant nonsyndromic hearing loss (ADNSHL), DFNA16, maps to chromosome 2q23-24.3 and is tightly linked to markers in the D2S2380-D2S335 interval. DFNA16 is unique in that it results in the only form of ADNSHL in which the phenotype includes rapidly progressing and fluctuating hearing loss that appears to respond to steroid therapy. This observation suggests that it may be possible to stabilize hearing through medical intervention, once the biophysiology of deafness due to DFNA16 is clarified. Especially intriguing is the localization of several voltage-gated sodium-channel genes to the DFNA16 interval. These cationic channels are excellent positional and functional DFNA16 candidate genes.

引用

页码：141 / 150

页数：10

共 46 条

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