Prevalence of Fabry disease-causing variants in the UK Biobank

Conclusion Fabry disease-causing GLA variants are more prevalent in an unselected population sample than the reported prevalence of Fabry disease. These are overwhelmingly variants associated with later onset. It is possible the prevalence of later-onset Fabry disease exceeds current estimates.

http://jmg.bmj.com/cgi/content/short/60/4/391?rss=1

Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Gilchrist, M., Casanova, F., Tyrrell, J. S., Cannon, S., Wood, A. R., Fife, N., Young, K., Oram, R. A., Weedon, M. N. Tags: Open access Population genetics Source Type: research