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Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
Journal article   Peer reviewed

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

Wallace L M Alward, John H Fingert, Michael A Coote, A Tim Johnson, S Fabián Lerner, Denise Junqua, Fiona J Durcan, Paul J McCartney, David A Mackey, Val C Sheffield, …
The New England journal of medicine, Vol.338(15), pp.1022-1027
04/09/1998
DOI: 10.1056/NEJM199804093381503
PMID: 9535666

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Abstract

A substantial proportion of cases of glaucoma have a genetic basis. Mutations causing glaucoma have been identified in the chromosome 1 open-angle glaucoma gene (GLC1A), which encodes a 57-kd protein known as myocilin. The normal role of this protein and the mechanism by which mutations cause glaucoma are not known. We screened 716 patients with primary open-angle glaucoma and 596 control subjects for sequence changes in the GLC1A gene. We identified 16 sequence variations that met the criteria for a probable disease-causing mutation because they altered the predicted amino acid sequence and they were found in one or more patients with glaucoma, in less than 1 percent of the control subjects. These 16 mutations were found in 33 patients (4.6 percent). Six of the mutations were found in more than 1 subject (total, 99). Clinical features associated with these six mutations included an age at diagnosis ranging from 8 to 77 years and maximal recorded intraocular pressures ranging from 12 to 77 mm Hg. A variety of mutations in the GLC1A gene are associated with glaucoma. The spectrum of disease can range from juvenile glaucoma to typical late-onset primary open-angle glaucoma.
 Mutation Cytoskeletal Proteins Glycoproteins - genetics Glaucoma, Open-Angle - genetics Humans Male Case-Control Studies Lod Score Chromosomes, Human, Pair 1 Age of Onset Female Aged Eye Proteins - genetics

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