期刊
NEUROBIOLOGY OF AGING
卷 33, 期 8, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2012.01.006
关键词
Lewy body brain disorders; VPS35; Genetic etiology
资金
- Methusalem excellence program of the Flemish Government
- University of Antwerp
- Research Foundation, Flanders (FWO)
- Agency for Innovation by Science and Technology Flanders (IWT)
- Belgian Science Policy Office [P6/43]
- Belgian Parkinson Foundation
- FWO
- IWT
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. (C) 2012 Elsevier Inc. All rights reserved.
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