中华耳科学杂志Issue(3)：340-344,5.DOI:10.3969/j.issn.1672-2922.2013.03.003
外显子组测序一个常染色体显性遗传非综合征型聋家系致病基因ACTG1
Whole Exome Sequencing Identifies ACTG1 as the Mutated Gene in a Chinese Family with Autosomal Dominant Non-Syndromic Hearing Loss
摘要
Abstract
Objective To analyze the clinical audiological characters and to identify the causative gene of a Chinese family with nonsyndromic autosomal dominant inherited hearing loss. Methods Clinical audiological characteristics and inheri-tance pattern of this family were evaluated,and pedigree was drawn based on medical history investigation. Whole exome se-quencing was conducted using DNA samples of two affected members of this family. Candidate mutation was confirmed by Sanger sequencing. Results This Chinese family was characterized by late onset progressive nonsydromic sensorineural hear-ing impairment. Whole exome sequencing revealed a heterozygous missense mutation c.364A>G in exon 4 of ACTG1, causing amino acid substitution Ile to Val at a conservative position 122. The p.I122V substitution is consistent with hearing loss in this Chinese family confirmed by Sanger sequencing. The alteration of conservative residue Ile122 was predicted to damage its interaction with actin-binding proteins, which may cause disruption of hair cell organization and function. Conclusion We have identified and confirmed that the I122V mutation in ACTG1 may have caused autosomal dominant non-syndromic hear-ing impairment in a Chinese family.关键词
常染色体显性遗传/耳聋/全外显子组测序/ACTG1Key words
DFNA/hearing loss/Whole Exome Sequencing/ACTG1分类
医药卫生引用本文复制引用
卢宇,袁慧军,张旭,燕志强,王燕飞,郑龙燕,郭菲菲,程静,韩东一,陈晓巍..外显子组测序一个常染色体显性遗传非综合征型聋家系致病基因ACTG1[J].中华耳科学杂志,2013,(3):340-344,5.基金项目
国家自然科学基金重点项目《新致聋基因的鉴定及其致聋机制研究》（No.81030017）资助 （）
