一个与波动性、进行性常染色体显性非综合征性听力损失相关的基因DFNA16，定位于2号染色体的2q23 - 24.3区域。
A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.
作者信息
Fukushima K, Kasai N, Ueki Y, Nishizaki K, Sugata K, Hirakawa S, Masuda A, Gunduz M, Ninomiya Y, Masuda Y, Sato M, McGuirt W T, Coucke P, Van Camp G, Smith R J
机构信息
Departments of Otolaryngology and Biochemistry, Okayama University Medical School, Okayama, Japan.
出版信息
Am J Hum Genet. 1999 Jul;65(1):141-50. doi: 10.1086/302461.
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.
导致常染色体显性非综合征性听力损失（ADNSHL）的第16个基因DFNA16，定位于2号染色体q23 - 24.3，并且与D2S2380 - D2S335区间内的标记紧密连锁。DFNA16的独特之处在于，它导致了ADNSHL的唯一一种形式，其表型包括快速进展和波动的听力损失，而这种听力损失似乎对类固醇治疗有反应。这一观察结果表明，一旦DFNA16所致耳聋的生物生理学得到阐明，通过医学干预稳定听力或许是可能的。特别引人关注的是，几个电压门控钠通道基因定位于DFNA16区间。这些阳离子通道是DFNA16优秀的位置和功能候选基因。
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