Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family
Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family
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ACTG1新突变导致中国家庭常染色体显性非综合征性听力障碍
DOI：
10.1016/s1673-8527(08)60075-2
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发表时间：
2008-09-01
影响因子：
5.9
通讯作者：
Liu, Mugen
中科院分区：
文献类型：
--
作者：
Liu, Ping;Li, Hu;Liu, Mugen
γ -肌动蛋白（ACTG1）基因是一种细胞质非肌动蛋白基因，它编码耳蜗感觉毛细胞中的一种主要的细胞骨架蛋白。研究发现，在欧洲和美国家庭中，ACTG1突变分别与染色体17q25.3上的DFNA 20/26位点相关，可导致常染色体显性、进行性、感音神经性听力损失。在本研究中，一种新的错义突变（c.364A>G; p.I122V）与家族中受影响的个体共分离，而在未受影响的家庭成员和150名不相关的正常对照中不存在。据预测，残基Ile122的改变会破坏其与肌动蛋白结合蛋白的相互作用，从而可能导致毛细胞组织和功能的破坏。这些发现有力地表明，ACTG1的I122V突变在一个中国家庭中导致常染色体显性非综合征性听力障碍，并扩大了导致听力损失的ACTG1突变的谱系。
The gamma-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.