| MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland. | |
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MedLine Citation:
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PMID: 11803488 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: To determine MYOC gene mutation frequency in patients with primary open-angle glaucoma (POAG) from Western Switzerland. METHODS: A total of 117 unselected index patients with primary open-angle glaucoma were submitted to a full eye examination. DNA was extracted from blood and PCR amplicons of MYOC exon 3 were screened for mutations by single-strand conformation polymorphism (SSCP) analysis. Abnormal conformers were analyzed both by direct bidirectional sequencing and by enzymatic mutation detection (EMD) assay. RESULTS: Ten occurrences of four different sequence changes were detected, including: 1) five times the same disease-causing mutation (Q368X) in five unrelated POAG patients and 2) three distinct polymorphisms in five patients. The patients carrying an MYOC mutant allele were characterized by a broad clinical variability in terms of age of onset (34-77 years) and highest intraocular pressure (IOP) values (23-47 mmHg). CONCLUSIONS: A pathogenic MYOC mutation (Q368X) was identified in 4.27% (5/117) of the studied population from Western Switzerland, which corresponds to the highest frequency yet reported for this mutation. |
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Authors:
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A Mataftsi; F Achache; E Héon; A Mermoud; P Cousin; G Metthez; D F Schorderet; F L Munier |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Ophthalmic genetics Volume: 22 ISSN: 1381-6810 ISO Abbreviation: Ophthalmic Genet. Publication Date: 2001 Dec |
Date Detail:
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Created Date: 2002-01-22 Completed Date: 2002-02-08 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 225-31 Citation Subset: IM |
Affiliation:
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Unité d'Oculogénétique, Hôpital Ophtalmique Jules Gonin, Lausanne, Switzerland. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Age of Onset Aged Aged, 80 and over Chromosomes, Human, Pair 1 / genetics Cytoskeletal Proteins / genetics DNA Mutational Analysis DNA Primers / chemistry Eye Proteins / genetics* Female Gene Frequency* Genotype Glaucoma, Open-Angle / diagnosis, genetics* Glycoproteins / genetics* Humans Male Middle Aged Mutation / genetics* Pedigree Phenotype Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Switzerland Trabecular Meshwork |
| Chemical | |
Reg. No./Substance:
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0/Cytoskeletal Proteins; 0/DNA Primers; 0/Eye Proteins; 0/Glycoproteins; 0/trabecular meshwork-induced glucocorticoid response protein |
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