title: Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.
abstract: OBJECTIVE
  To examine the myocilin (MYOC) gene for mutations in Japanese patients with primary open-angle glaucoma (POAG) and to determine the phenotypes of the patients with the mutations.
  
  
  METHODS
  One-hundred thirty-eight unrelated Japanese patients with POAG were studied. Genomic DNA was extracted from leukocytes of peripheral blood, and the three coding exons including the intron-exon boundaries were amplified by polymerase chain reaction (PCR) and directly sequenced bi-directionally.
  
  
  RESULTS
  Two sequence variants were identified, one novel non-synonymous amino acid change (p.Gln297His) and one reported synonymous amino acid change (p.Ala363Thr). These mutations were not detected in the 118 ethnically-matched controls. p.Gln297His was found in a 70-year-old man, who developed POAG at a late age, and his intraocular pressure was high. p.Ala363Thr was found in two cases, and both patients developed POAG at an early age and had high intraocular pressures that responded poorly to medical treatment.
  
  
  CONCLUSIONS
  Two non-synonymous variants, p.Gln297His and p.Ala363Thr, indicate that they are involved in the pathogenesis of POAG. p.Ala363Thr has been found in another Japanese population and would be useful in genetic testing.
authors.affiliation: Department of Ophthalmology, Tohoku University Graduate School of Medicine, Miyagi, Japan.
authors.forename: MingGe
authors.initials: M
authors.lastname: Mengkegale
authors.forename: Nobuo
authors.initials: N
authors.lastname: Fuse
authors.forename: Akiko
authors.initials: A
authors.lastname: Miyazawa
authors.forename: Kana
authors.initials: K
authors.lastname: Takahashi
authors.forename: Motohiko
authors.initials: M
authors.lastname: Seimiya
authors.forename: Tomoki
authors.initials: T
authors.lastname: Yasui
authors.forename: Makoto
authors.initials: M
authors.lastname: Tamai
authors.forename: Toru
authors.initials: T
authors.lastname: Nakazawa
authors.forename: Kohji
authors.initials: K
authors.lastname: Nishida
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin