Abstract
Purpose
To identify the prevalence of myocilin gene mutations in a UK glaucoma cohort.
Methods
Primary open-angle (POAG) and normal tension glaucoma patients were recruited from the Southampton University Hospital Trust Eye Clinic and satellite regional glaucoma clinics. Phenotype data relating to disease history and other potential risk factors were recorded and blood samples collected for each consenting participant. Point mutation analysis of the myocilin gene was carried out using six overlapping PCR fragments covering the entire coding sequence of the gene. A total of 316 POAG samples were examined of which 7 (2.2 %) tested positive for disease-causing mutations in this gene. One of these seven non-synonymous mutations represented a previously unreported amino-acid substitution of cysteine for arginine at codon 296 (p.R296C) of the myocilin protein.
Conclusions
This study identifies a 2.2% prevalence of myocilin mutations in a cohort of ethnically homogenous glaucoma patients selected from a UK ophthalmic clinic. A novel myocilin mutation is also described. This study identifies that myocilin genetic screening is feasible in NHS glaucoma clinics for genetic counselling and cascade testing of relatives of patients affected by myocilin glaucoma.
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Acknowledgements
We thank our collaborators Edwin Stone and John Fingert from the University of Iowa for providing positive controls for the MYOC screening. We thank the research nurses of the Wellcome Trust Clinical Research Facility who collected patient information and blood samples and we are very grateful to all patients who kindly agreed to partake in this study. This study was funded by the Gift of Sight Appeal, the International Glaucoma Association and the UK Eire Glaucoma Society.
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Ennis, S., Gibson, J., Griffiths, H. et al. Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients. Eye 24, 328–333 (2010). https://doi.org/10.1038/eye.2009.73
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DOI: https://doi.org/10.1038/eye.2009.73
