title: Novel mutations in the myocilin gene in Japanese glaucoma patients.
abstract: Myocilin is a gene responsible for juvenile onset primary open angle glaucoma (POAG) mapped as the GLC1A locus and, many mutations have been reported worldwide. Some mutations were found not only in patients with juvenile onset POAG, but also in patients with late onset POAG and in patients with normal tension glaucoma. To investigate the mutation prevalence in Japan, we performed a mutation analysis in 140 unrelated Japanese patients. We have identified the 10 sequence variants, of which four were highly probable for disease-causing mutations (Arg46ter, Arg158Gln, Ile360Asn, and Ala363Thr), and six polymorphisms (Gln19His, Arg76Lys, Asp208Glu, Val439Val, Arg470His, and Ala488Ala). Thus, myocilin mutations were found at the rate of 4/140 (2.9%) probands, similar to previous reports with other ethnic populations.
authors.affiliation: Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan. rkubota@u.washington.edu
authors.forename: R
authors.initials: R
authors.lastname: Kubota
authors.forename: Y
authors.initials: Y
authors.lastname: Mashima
authors.forename: Y
authors.initials: Y
authors.lastname: Ohtake
authors.forename: T
authors.initials: T
authors.lastname: Tanino
authors.forename: T
authors.initials: T
authors.lastname: Kimura
authors.forename: Y
authors.initials: Y
authors.lastname: Hotta
authors.forename: A
authors.initials: A
authors.lastname: Kanai
authors.forename: S
authors.initials: S
authors.lastname: Tokuoka
authors.forename: I
authors.initials: I
authors.lastname: Azuma
authors.forename: H
authors.initials: H
authors.lastname: Tanihara
authors.forename: M
authors.initials: M
authors.lastname: Inatani
authors.forename: Y
authors.initials: Y
authors.lastname: Inoue
authors.forename: J
authors.initials: J
authors.lastname: Kudoh
authors.forename: Y
authors.initials: Y
authors.lastname: Oguchi
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
mesh_terms: D000328:Adult; D002648:Child; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005901:Glaucoma / Q000453:epidemiology / Q000235:genetics; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin