title: GIGYF2 has no major role in Parkinson genetic etiology in a Belgian population.
abstract: Missense mutations were identified in the Grb10-Interacting GYF Protein-2 gene (GIGYF2), located in the chromosomal region 2q36-q37, in familial Parkinson disease (PD) patients of European descent. To determine the contribution of GIGYF2 mutations in an extended (N=305) Belgian series of both familial and sporadic PD patients, we sequenced all 32 coding and non-coding exons of GIGYF2. In three sporadic PD patients we identified two novel heterozygous missense mutations (c.1907A>G, p.Tyr636Cys and c.2501G>A, p.Arg834Gln), that were absent from control individuals (N=360). However, since we lack genetic as well as functional data supporting their pathogenic nature, we cannot exclude that these variants are benign polymorphisms. Together, our results do not support a role for GIGYF2 in the genetic etiology of Belgian PD.
authors.affiliation: Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, B-2610 Antwerpen, Belgium.
authors.forename: Bram
authors.initials: B
authors.lastname: Meeus
authors.forename: Karen
authors.initials: K
authors.lastname: Nuytemans
authors.forename: David
authors.initials: D
authors.lastname: Crosiers
authors.forename: Sebastiaan
authors.initials: S
authors.lastname: Engelborghs
authors.forename: Philippe
authors.initials: P
authors.lastname: Pals
authors.forename: Barbara
authors.initials: B
authors.lastname: Pickut
authors.forename: Karin
authors.initials: K
authors.lastname: Peeters
authors.forename: Maria
authors.initials: M
authors.lastname: Mattheijssens
authors.forename: Ellen
authors.initials: E
authors.lastname: Corsmit
authors.forename: Patrick
authors.initials: P
authors.lastname: Cras
authors.forename: Peter Paul
authors.initials: PP
authors.lastname: De Deyn
authors.forename: Jessie
authors.initials: J
authors.lastname: Theuns
authors.forename: Christine
authors.initials: C
authors.lastname: Van Broeckhoven