title: Identification of a gene that causes primary open angle glaucoma.
abstract: Glaucoma is a major cause of blindness and is characterized by progressive degeneration of the optic nerve and is usually associated with elevated intraocular pressure. Analyses of sequence tagged site (STS) content and haplotype sharing between families affected with chromosome 1q-linked open angle glaucoma (GLC1A) were used to prioritize candidate genes for mutation screening. A gene encoding a trabecular meshwork protein (TIGR) mapped to the narrowest disease interval by STS content and radiation hybrid mapping. Thirteen glaucoma patients were found to have one of three mutations in this gene (3.9 percent of the population studied). One of these mutations was also found in a control individual (0.2 percent). Identification of these mutations will aid in early diagnosis, which is essential for optimal application of existing therapies.
authors.affiliation: Department of Ophthalmology, University of Iowa College of Medicine, Iowa City, IA 52242, USA.
authors.forename: E M
authors.initials: EM
authors.lastname: Stone
authors.forename: J H
authors.initials: JH
authors.lastname: Fingert
authors.forename: W L
authors.initials: WL
authors.lastname: Alward
authors.forename: T D
authors.initials: TD
authors.lastname: Nguyen
authors.forename: J R
authors.initials: JR
authors.lastname: Polansky
authors.forename: S L
authors.initials: SL
authors.lastname: Sunden
authors.forename: D
authors.initials: D
authors.lastname: Nishimura
authors.forename: A F
authors.initials: AF
authors.lastname: Clark
authors.forename: A
authors.initials: A
authors.lastname: Nystuen
authors.forename: B E
authors.initials: BE
authors.lastname: Nichols
authors.forename: D A
authors.initials: DA
authors.lastname: Mackey
authors.forename: R
authors.initials: R
authors.lastname: Ritch
authors.forename: J W
authors.initials: JW
authors.lastname: Kalenak
authors.forename: E R
authors.initials: ER
authors.lastname: Craven
authors.forename: V C
authors.initials: VC
authors.lastname: Sheffield
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002878:Chromosomes, Human, Pair 1; D003598:Cytoskeletal Proteins; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D016324:Sequence Tagged Sites; D014129:Trabecular Meshwork / Q000378:metabolism*; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin