OPA1基因的G401D突变在中国一个家族中导致常染色体显性遗传性视神经萎缩和听力丧失。
The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.
作者信息
Ke Tie, Nie Shang-wu, Yang Qin-bo, Liu Jian-ping, Zhou Lin-na, Ren Xiang, Liu Jing-yu, Wang Qing, Liu Mu-gen
机构信息
Center for Human Genome Research, College of Life Sciences and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Oct;23(5):481-5.
OBJECTIVE
To describe the clinical and genetic characteristics of a Chinese family affected with optic atrophy 1 (OPA1).
METHODS
Linkage analysis and DNA sequencing as well as PCR/restriction fragment length polymorphism (RFLP) analysis were performed to identify the disease-causing mutation.
RESULTS
A missense mutation, G401D in the OPA1 gene was identified, and the patients demonstrate inherited syndrome of optic atrophy and hearing loss.
CONCLUSION
The present study demonstrates that a mutation in the OPA1 gene can cause optic atrophy in Chinese patients, and supports the notion that OPA1 mutation may lead to OPA1 combined with hearing loss.
目的
描述一个患有视神经萎缩1型（OPA1）的中国家系的临床和遗传特征。
方法
进行连锁分析、DNA测序以及聚合酶链反应/限制性片段长度多态性（PCR/RFLP）分析以鉴定致病突变。
结果
在OPA1基因中鉴定出一个错义突变G401D，且患者表现出遗传性视神经萎缩和听力丧失综合征。
结论
本研究表明OPA1基因突变可导致中国患者出现视神经萎缩，并支持OPA1突变可能导致OPA1合并听力丧失这一观点。
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