title: Contribution of VPS35 genetic variability to LBD in the Flanders-Belgian population.
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.
authors.affiliation: Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.
authors.forename: Aline
authors.initials: A
authors.lastname: Verstraeten
authors.forename: Eline
authors.initials: E
authors.lastname: Wauters
authors.forename: David
authors.initials: D
authors.lastname: Crosiers
authors.forename: Bram
authors.initials: B
authors.lastname: Meeus
authors.forename: Ellen
authors.initials: E
authors.lastname: Corsmit
authors.forename: Ellen
authors.initials: E
authors.lastname: Elinck
authors.forename: Maria
authors.initials: M
authors.lastname: Mattheijssens
authors.forename: Karin
authors.initials: K
authors.lastname: Peeters
authors.forename: Patrick
authors.initials: P
authors.lastname: Cras
authors.forename: Barbara
authors.initials: B
authors.lastname: Pickut
authors.forename: Rik
authors.initials: R
authors.lastname: Vandenberghe
authors.forename: Sebastiaan
authors.initials: S
authors.lastname: Engelborghs
authors.forename: Peter Paul
authors.initials: PP
authors.lastname: De Deyn
authors.forename: Christine
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: Jessie
authors.initials: J
authors.lastname: Theuns
mesh_terms: D000369:Aged, 80 and over; D001530:Belgium / Q000453:epidemiology; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D020961:Lewy Body Disease / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D012307:Risk Factors; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: D005819:Genetic Markers; C419573:VPS35 protein, human; D033921:Vesicular Transport Proteins