title: Identification of a new GLC1A mutation in a sporadic, primary open-angle glaucoma in Japan.
abstract: Glaucoma is a major cause of blindness characterized by progressive degeneration of the optic nerve and elevated intraocular pressure. Recent studies have revealed a genetic basis for a substantial proportion of cases of familial primary open-angle glaucoma (POAG) and the gene causing the abnormality has been identified. Sequence variations that meet the criteria for a probable disease-causing mutation have been found in the American and European populations. In this study, we examined 58 cases of sporadic glaucoma from Japan to clarify the relationship between the mutations of the GLC1A gene and sporadic glaucoma in Japan. We have examined 33 POAG, 17 primary closed-angle glaucomas, 6 normal-tension glaucomas and 2 steroid-induced glaucomas for mutation of the GLC1A gene using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and direct DNA sequencing studies. We identified a previously unreported GGT right curved arrow GAT transition at codon 451 in exon 3, resulting in a glycine to asparagine substitution in one POAG patient. No other mutations of the GLC1A gene were found in other types of glaucoma. These findings further emphasize the importance of GLC1A mutation in the development of POAG.
authors.affiliation: Department of Internal Medicine, Kochi Medical School, Okohcho, Nankoku, Kochi 783-8505, Japan. ikezoet@med.kochi-ms.ac.jp
authors.forename: Takayuki
authors.initials: T
authors.lastname: Ikezoe
authors.forename: Seisho
authors.initials: S
authors.lastname: Takeuchit
authors.forename: Naoki
authors.initials: N
authors.lastname: Komatsu
authors.forename: Miyuki
authors.initials: M
authors.lastname: Okada
authors.forename: Atsuki
authors.initials: A
authors.lastname: Fukushima
authors.forename: Hisayuki
authors.initials: H
authors.lastname: Ueno
authors.forename: H Phillip
authors.initials: HP
authors.lastname: Koeffler
authors.forename: Hirokuni
authors.initials: H
authors.lastname: Taguchi
mesh_terms: D044466:Asian People / Q000235:genetics; D003598:Cytoskeletal Proteins; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007564:Japan; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin