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http://purl.uniprot.org/citations/9535666http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/9535666http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/9535666http://www.w3.org/2000/01/rdf-schema#comment"

Background

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.

Methods

We screened 716 patients with primary open-angle glaucoma and 596 control subjects for sequence changes in the GLC1A gene.

Results

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.

Conclusions

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."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.org/dc/terms/identifier"doi:10.1056/nejm199804093381503"xsd:string
http://purl.uniprot.org/citations/9535666http://purl.org/dc/terms/identifier"doi:10.1056/nejm199804093381503"xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Sheffield V.C."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Sheffield V.C."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Stone E.M."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Stone E.M."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Johnson A.T."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Johnson A.T."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Mackey D.A."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Mackey D.A."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Fingert J.H."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Fingert J.H."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Alward W.L.M."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Alward W.L.M."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Coote M.A."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Coote M.A."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Durcan F.J."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Durcan F.J."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Junqua D."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Junqua D."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Lerner S.F."xsd:string
http://purl.uniprot.org/citations/9535666http://purl.uniprot.org/core/author"Lerner S.F."xsd:string
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