title: Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.
abstract: Mutations in the trabecular meshwork induced glucocorticoid response protein (TIGR) or myocilin (MYOC) has recently been shown to cause juvenile onset primary open angle glaucoma (JOAG). In this study, we identified two new mutations (Asp380Ala and Ser502Pro) in two British families and another (Pro370Leu) in a French-Canadian family. These mutations were not present in a total of 106 normal chromosomes. In another Turkish family with JOAG, we also detected a sequence variant that was proven to be an amino acid polymorphism (Arg76Lys). No other sequence changes were found in the entire coding region and splice junctions of the TIGR/MYOC gene in this family. However, it is still possible that mutations either in the TIGR promoter or in another neighbouring gene could cause glaucoma in this JOAG family. Our results confirm the role of the TIGR/MYOC gene in the aetiology of the JOAG phenotype.
authors.affiliation: Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington 06030-1110, USA.
authors.forename: D
authors.initials: D
authors.lastname: Stoilova
authors.forename: A
authors.initials: A
authors.lastname: Child
authors.forename: G
authors.initials: G
authors.lastname: Brice
authors.forename: T
authors.initials: T
authors.lastname: Desai
authors.forename: M
authors.initials: M
authors.lastname: Barsoum-Homsy
authors.forename: N
authors.initials: N
authors.lastname: Ozdemir
authors.forename: L
authors.initials: L
authors.lastname: Chevrette
authors.forename: M F
authors.initials: MF
authors.lastname: Adam
authors.forename: H J
authors.initials: HJ
authors.lastname: Garchon
authors.forename: R
authors.initials: R
authors.lastname: Pitts Crick
authors.forename: M
authors.initials: M
authors.lastname: Sarfarazi
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D003598:Cytoskeletal Proteins; D005134:Eye Neoplasms / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin