The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.
- Author:
Tie KE
1
;
Shang-wu NIE
;
Qin-bo YANG
;
Jian-ping LIU
;
Lin-na ZHOU
;
Xiang REN
;
Jing-yu LIU
;
Qing WANG
;
Mu-gen LIU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; Child; China; Chromosomes, Human, Pair 3; genetics; DNA Mutational Analysis; Family Health; Female; GTP Phosphohydrolases; genetics; Hearing Loss; genetics; Humans; Male; Middle Aged; Mutation; Optic Atrophy, Autosomal Dominant; genetics; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length
- From: Chinese Journal of Medical Genetics 2006;23(5):481-485
- CountryChina
- Language:English
-
Abstract:
OBJECTIVETo describe the clinical and genetic characteristics of a Chinese family affected with optic atrophy 1 (OPA1).
METHODSLinkage analysis and DNA sequencing as well as PCR/restriction fragment length polymorphism (RFLP) analysis were performed to identify the disease-causing mutation.
RESULTSA missense mutation, G401D in the OPA1 gene was identified, and the patients demonstrate inherited syndrome of optic atrophy and hearing loss.
CONCLUSIONThe 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.
