Contribution of **VPS35** genetic variability to LBD in the Flanders-Belgian populationContribution of **VPS35** genetic variability to LBD in the Flanders-Belgian population
Van Broeckhoven, Christine
Faculty of Medicine and Health Sciences
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Translational Neurosciences (TNW)
VIB DMG - Neurodegenerative Brain Diseases Group
Neurochemistry and behaviour
VIB DMG - Neurogenetics Group
2012Fayetteville, N.Y., 2012
Neurobiology of aging. - Fayetteville, N.Y.
33(2012):8, 3 p.
University of Antwerp
VPS35 was recently identified as a novel autosomal dominant gene for Parkinson disease. In this study, we aimed to determine the contribution of simple and complex VPS35 variations to the genetic etiology of the spectrum of Lewy body disorders (LBD) in a Flanders-Belgian patient cohort (n = 677). We identified 3 novel missense variations in addition to 1 silent and 1 intronic variation predicted to activate a cryptic splice site, but no copy number variations. Despite the absence of these rare variations in the control group (n = 800), we could not attain convincing evidence for pathogenicity by segregation analysis or in silico predictions. Hence, our data do not support a major role for VPS35 variations in the genetic etiology of Lewy body disorders in the Flanders-Belgian population.