Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family  

作　　者：Ping Liu Hu Li Xiang Ren Haiyan Mao Qihui Zhu Zhengfeng Zhu Rong Yang Wenlin Yuan Jingyu Liu Qing Wang Mugen Liu 

机构地区：[1]Key Laboratory of Molecular Biophysics of Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, China [2]The Fourth People＇s Hospital ofYancheng, Yancheng 224000, Jiangsu, China

出　　处：《Journal of Genetics and Genomics》2008年第9期553-558,共6页遗传学报（英文版）

基　　金：the National Natural Science Foundation of China (No. 30670736 and 30500168);the Department of Science and Technology of Jiangsu Province (No. BS2006533).

摘　　要：γ -actin （ACTG1） gene is a cytoplasmic nonmuscle actin gene, which encodes a major cytoskeletal protein in the sensory hair cells of the cochlea. Mutations in ACTG1 were found to cause autosomal dominant, progressive, sensorineural hearing loss linked to the DFNA 20/26 locus on chromosome 17q25.3 in European and American families, respectively. In this study, a novel missense mutation （c.364A〉G; p.I122V） co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls. The alteration of residue Ile122 was predicted to damage its interaction with actin-binding proteins, which may cause disruption of hair cell organization and function. These findings strongly suggested that the I122V mutation in ACTG1 caused autosomal dominant non-syndromic hearing impairment in a Chinese family and expanded the spectrum of ACTG1 mutations causing hearing loss.γ -actin （ACTG1） gene is a cytoplasmic nonmuscle actin gene, which encodes a major cytoskeletal protein in the sensory hair cells of the cochlea. Mutations in ACTG1 were found to cause autosomal dominant, progressive, sensorineural hearing loss linked to the DFNA 20/26 locus on chromosome 17q25.3 in European and American families, respectively. In this study, a novel missense mutation （c.364A〉G; p.I122V） co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls. The alteration of residue Ile122 was predicted to damage its interaction with actin-binding proteins, which may cause disruption of hair cell organization and function. These findings strongly suggested that the I122V mutation in ACTG1 caused autosomal dominant non-syndromic hearing impairment in a Chinese family and expanded the spectrum of ACTG1 mutations causing hearing loss.

关 键 词：non-syndromic heating impairment （NSHI） ACTG1 LINKAGE sequence analysis restriction fragment length polymorphism （RFLP） analysis 

分 类 号：Q754[生物学—分子生物学]