GIGYF2 has no major role in Parkinson genetic etiology in a Belgian population.
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.
Meeus
Bram
B
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, B-2610 Antwerpen, Belgium.
Nuytemans
Karen
K
Crosiers
David
D
Engelborghs
Sebastiaan
S
Pals
Philippe
P
Pickut
Barbara
B
Peeters
Karin
K
Mattheijssens
Maria
M
Corsmit
Ellen
E
Cras
Patrick
P
De Deyn
Peter Paul
PP
Theuns
Jessie
J
Van Broeckhoven
Christine
C