Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6810442 | Neurobiology of Aging | 2011 | 5 Pages |
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 (NÂ =Â 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 (NÂ =Â 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.
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Authors
Bram Meeus, Karen Nuytemans, David Crosiers, Sebastiaan Engelborghs, Philippe Pals, Barbara Pickut, Karin Peeters, Maria Mattheijssens, Ellen Corsmit, Patrick Cras, Peter Paul De Deyn, Jessie Theuns, Christine Van Broeckhoven,