title: [Low penetrance of His26Asp mutation in the optineurin gene in a Japanese family with normal-tension glaucoma].
abstract: OBJECTIVE
  Three glaucoma genes have been identified in open-angle glaucoma(OAG). In this study, two of these genes were analyzed in Japanese patients with OAG.
  
  
  METHODS
  After informed consent was obtained, the myocilin gene and the optineurin gene were analyzed in 99 Japanese patients with OAG, including 49 cases of primary open-angle glaucoma(POAG) and 50 cases of normal-tension glaucoma(NTG). The patients were outpatients at the Tokyo Metropolitan Police Hospital. Family members were examined for the genes and clinical features if the proband had a mutation.
  
  
  RESULTS
  One of the 99 patients had His26Asp mutation in the optineurin gene. None of the 240 subjects serving as controls had this mutation. The proband was a 37-year-old man diagnosed as having NTG. His father had the same mutation, but had normal clinical findings. His mother did not have the mutation, but had ocular hypertension. Polymorphism of Thr34Thr was observed in a wild type for the proband, and heterozygous change was found in his parents. For the myocilin gene, only the Asp208Glu mutation was found in his mother.
  
  
  CONCLUSIONS
  His26Asp mutation in the optineurin gene showed low penetrance in a Japanese family with NTG.
authors.affiliation: Department of Ophthalmology, Tokyo Metropolitan Police Hospital, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Yasuda
authors.forename: Kenji
authors.initials: K
authors.lastname: Nakamoto
authors.forename: Tomoyo
authors.initials: T
authors.lastname: Funayama
authors.forename: Yukihiko
authors.initials: Y
authors.lastname: Mashima
mesh_terms: D000328:Adult; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D008875:Middle Aged; D009154:Mutation; D019683:Penetrance; D035582:Transcription Factor TFIIIA / Q000235:genetics*; D000099179:Myocilin
chemical_list: D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D026901:Membrane Transport Proteins; D035582:Transcription Factor TFIIIA; D000099179:Myocilin; C409460:OPTN protein, human