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


CONCLUSIONS
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.
Ke
Tie
T
Center for Human Genome Research, College of Life Sciences and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074 PR China.
Nie
Shang-wu
SW
Yang
Qin-bo
QB
Liu
Jian-ping
JP
Zhou
Lin-na
LN
Ren
Xiang
X
Liu
Jing-yu
JY
Wang
Qing
Q
Liu
Mu-gen
MG
D000328:Adult; D001483:Base Sequence; D002648:Child; D002681:China; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human