title: Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.
abstract: Mutations at the myocilin (MYOC) gene within the GLC1A locus have been revealed in 2-4% of patients suffering primary open angle glaucoma (POAG) worldwide. In our ongoing glaucoma study six hundred eighty two persons have been screened for MYOC mutations. The first group consisted of 453 patients from a long-term clinical study diagnosed either with juvenile OAG (JOAG), POAG, ocular hypertension (OHT) or normal tension glaucoma (NTG) plus 22 cases of secondary glaucoma. This group, and additional 83 healthy controls, is part of a long term study with repeated clinical examinations at the University of Erlangen-Nurnberg. An additional sample of 124 glaucoma patients or at risk persons referred from other sources were included in the mutation screening. Five novel mutations, namely Gly434Ser, Asn450Asp, Val251Ala, Ile345Met and Ser393Asn, could be identified as cause of preperimetric POAG, JOAG, normal tension POAG and POAG. Myocilin mutations were identified similar with previous reports with other ethnic populations at the rate of 11/341 (3.2%) probands.
authors.affiliation: Institute of Human Genetics, Schwabachanlage 10, Friedrich-Alexander University (FAU) of Erlangen-Nurnberg, D-91054 Erlangen, Germany.
authors.forename: Karin
authors.initials: K
authors.lastname: Michels-Rautenstrauss
authors.forename: Christian
authors.initials: C
authors.lastname: Mardin
authors.forename: Nina
authors.initials: N
authors.lastname: Wakili
authors.forename: Anselm M
authors.initials: AM
authors.lastname: Jünemann
authors.forename: Luis
authors.initials: L
authors.lastname: Villalobos
authors.forename: Carlos
authors.initials: C
authors.lastname: Mejia
authors.forename: Gabriela Chavarria
authors.initials: GC
authors.lastname: Soley
authors.forename: Jorge
authors.initials: J
authors.lastname: Azofeifa
authors.forename: Sevinc
authors.initials: S
authors.lastname: Ozbey
authors.forename: Gottfried O H
authors.initials: GO
authors.lastname: Naumann
authors.forename: Andre
authors.initials: A
authors.lastname: Reis
authors.forename: Bernd
authors.initials: B
authors.lastname: Rautenstrauss
mesh_terms: D017668:Age of Onset; D002648:Child; D003598:Cytoskeletal Proteins; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005787:Gene Frequency; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000503:physiopathology; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D004247:DNA; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin