OPA1基因G401D突变导致常染色体视神经萎缩和听力受损(英文)

The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family

目的对一个中国视神经萎缩1(optic atrophy1,OPA1)家系进行临床和基因分析。方法对家系进行连锁分析,通过测序和限制性片段长度多态鉴定致病基因突变。结果在家系患者中均发现OPA1基因的一个错义突变1202(G→A),即G401D,而且患者呈现出视神经萎缩以及听力受损的综合征症状。结论在中国OPA1患者中鉴定了OPA1基因突变,并支持OPA1基因突变可导致伴随有听力受损的视神经萎缩。

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, （MOLD 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.