title: The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.
abstract: 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.
authors.affiliation: Center for Human Genome Research, College of Life Sciences and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074 PR China.
authors.forename: Tie
authors.initials: T
authors.lastname: Ke
authors.forename: Shang-wu
authors.initials: SW
authors.lastname: Nie
authors.forename: Qin-bo
authors.initials: QB
authors.lastname: Yang
authors.forename: Jian-ping
authors.initials: JP
authors.lastname: Liu
authors.forename: Lin-na
authors.initials: LN
authors.lastname: Zhou
authors.forename: Xiang
authors.initials: X
authors.lastname: Ren
authors.forename: Jing-yu
authors.initials: JY
authors.lastname: Liu
authors.forename: Qing
authors.initials: Q
authors.lastname: Wang
authors.forename: Mu-gen
authors.initials: MG
authors.lastname: Liu
mesh_terms: 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
chemical_list: D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human