中国听力语言康复科学杂志2016，Vol.14Issue(4)：284-288,5.DOI:10.3969/j.issn.1672-4933.2016.04.013
常染色体显性致聋基因KCNQ4的研究进展
Research Progress in the Causative Gene KCNQ4 for Autosomal Dominant Non-syndromic Hearing Loss Type 2
刘小旦 1曲春燕1
作者信息
- 1. 中国聋儿康复研究中心 北京 100029
- 折叠
摘要
Abstract
KCNQ4 is the causative gene for autosomal dominant non-syndromic hearing loss type 2. Since its first mutation was found in 1999, 23 different mutations have been reported. With the widely application of the next-generation sequencing in clinical diagnosis, more new mutations in KCNQ4 will be discovered. This review summarizes all the found mutations of KCNQ4 and their pathogenic mechanisms underlying deafness in order to give the researchers a comprehensive overview of progress in this field.关键词
遗传性耳聋/DFNA2/KCNQ4/突变Key words
Hereditary hearing loss/DFNA2/KCNQ4/Mutation引用本文复制引用
刘小旦,曲春燕..常染色体显性致聋基因KCNQ4的研究进展[J].中国听力语言康复科学杂志,2016,14(4):284-288,5.
