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

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...

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Bibliographic Details
Published in:Ophthalmic genetics 2001, Vol.22 (4), p.225-231
Main Authors: Mataftsi, A., Achache, F., Héon, E., Mermoud, A., Cousin, P., Metthez, G., Schorderet, D.F., Munier, F.L.
Format: Article
Language:English
Subjects:
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
Glaucoma, Open-Angle - genetics
Glycoproteins - genetics
Humans
Male
Middle Aged
Mutation - genetics
Pedigree
Phenotype
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Switzerland
Trabecular Meshwork
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Summary: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.
ISSN:1381-6810
1744-5094
DOI:10.1076/opge.22.4.225.2218