title: Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma.
abstract: OBJECTIVE
  To describe a new mutation of the trabecular meshwork-inducible glucocorticoid response protein (TIGR) gene in a Japanese patient with familial primary open angle glaucoma (POAG).
  
  
  METHODS
  Standard ocular examinations were performed on the 44-year-old patient, his sister, and mother. DNA sequencing was used to identify the mutation. We also developed a DNA diagnostic method for detecting this missense mutation by polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA).
  
  
  RESULTS
  The patient, father, and sister had been diagnosed as having POAG. The patient and his sister had a Thr448Pro mutation (C-->A transition at the nucleotide number 1419) in exon 3. This mutation has not been reported before.
  
  
  CONCLUSIONS
  Gene analysis is promising for an early diagnosis among the family members of familial POAG patients and will contribute to early therapy before an occurrence of irreversible visual impairment.
authors.affiliation: Department of Ophthalmology, Miyazaki Medical College, Kiyotake, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Yokoyama
authors.forename: N
authors.initials: N
authors.lastname: Nao-i
authors.forename: Y
authors.initials: Y
authors.lastname: Date
authors.forename: M
authors.initials: M
authors.lastname: Nakazato
authors.forename: H
authors.initials: H
authors.lastname: Chumann
authors.forename: E
authors.initials: E
authors.lastname: Chihara
authors.forename: A
authors.initials: A
authors.lastname: Sawada
authors.forename: S
authors.initials: S
authors.lastname: Matsukura
mesh_terms: D000368:Aged; D003598:Cytoskeletal Proteins; D004247:DNA / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006023:Glycoproteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D004247:DNA; D017931:DNA Primers; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin