Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss:: KCNQ4 is a gene responsible in Japanese
Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss:: KCNQ4 is a gene responsible in Japanese
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DOI：
10.1007/s100380170053
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发表时间：
2001-01-01
影响因子：
3.5
通讯作者：
Usami, S
中科院分区：
文献类型：
--
作者：
Akita, J;Abe, S;Usami, S
对16个日本非综合征型常染色体显性感音神经性听力损失（ADSNHL）家系进行了临床和遗传学研究。大多数家庭表现为语后听力损失。虽然他们的听力损失的严重程度各不相同，大多数患者表现出进行性的轻中度感音神经性听力损失。对MYO7A、KCNQ4和GJB3基因进行突变分析，这些基因已知是常染色体显性感音神经性听力损失的原因。目前的研究报告，KCNQ4，钾通道基因的一个大家族的成员，突变负责ADSNHL在一个日本家庭。
Sixteen Japanese nonsyndromic autosomal dominant sensorineural hearing loss (ADSNHL) families were investigated clinically as well as genetically. Most families showed postlingual hearing loss. Although the severity of their hearing loss varied, most patients showed mild-moderate sensorineural hearing loss of a progressive nature. Mutation analysis was performed fur the MYO7A, KCNQ4, and GJB3 genes, which are known to be responsible for autosomal dominant sensorineural hearing loss. The present study reports that a mutation in KCNQ4, a member of a large family of potassium channel genes, was responsible for ADSNHL in one Japanese family.