Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2006
The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.
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Ke Tie, Nie Shang-wu, Yang Qin-bo, Liu Jian-ping, Zhou Lin-na, Ren Xiang, Liu Jing-yu, Wang Qing, Liu Mu-gen
Аннотация
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.
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.