MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland

Détails

ID Serval
serval:BIB_A45FC41B05C6
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland
Périodique
Ophthalmic Genetics
Auteur(s)
Mataftsi  A., Achache  F., Heon  E., Mermoud  A., Cousin  P., Metthez  G., Schorderet  D. F., Munier  F. L.
ISSN
1381-6810 (Print)
Statut éditorial
Publié
Date de publication
12/2001
Volume
22
Numéro
4
Pages
225-31
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec
Résumé
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.
Mots-clé
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
Pubmed
Création de la notice
28/01/2008 13:49
Dernière modification de la notice
03/03/2018 20:13
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