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Abstract #6596 Published in IGR 4-1
MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland
Mataftsi A; Achache F; Heon E; Mermoud A; Cousin P; Metthez G; Schorderet DF; Munier FLOphthalmic Genetics 2001; 22: 225-231
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.
Dr. A. Mataftsi, Unite d'Oculogenetique, Hopital Ophtalmique Jules Gonin, Lausanne, Switzerland
Classification:
1.2 Population genetics (Part of: 1 General aspects)