Document Detail


MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland.
MedLine Citation:
PMID:  11803488     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
A Mataftsi; F Achache; E Héon; A Mermoud; P Cousin; G Metthez; D F Schorderet; F L Munier
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Ophthalmic genetics     Volume:  22     ISSN:  1381-6810     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  2001 Dec 
Date Detail:
Created Date:  2002-01-22     Completed Date:  2002-02-08     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  225-31     Citation Subset:  IM    
Affiliation:
Unité d'Oculogénétique, Hôpital Ophtalmique Jules Gonin, Lausanne, Switzerland.
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MeSH Terms
Descriptor/Qualifier:
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:
0/Cytoskeletal Proteins; 0/DNA Primers; 0/Eye Proteins; 0/Glycoproteins; 0/trabecular meshwork-induced glucocorticoid response protein

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