Publication
Title
Contribution of **VPS35** genetic variability to LBD in the Flanders-Belgian population
Author
Abstract
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.
Language
English
Source (journal)
Neurobiology of aging. - Fayetteville, N.Y.
Publication
Fayetteville, N.Y. : 2012
ISSN
0197-4580
Volume/pages
33:8(2012), 3 p.
Article Reference
1844.e11
ISI
000306070800042
Medium
E-only publicatie
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 04.04.2012
Last edited 18.10.2017
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