Title
|
|
|
|
**GIGYF2** has no major role in Parkinson genetic etiology in a Belgian population
| |
Author
|
|
|
|
| |
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. |
| |
Language
|
|
|
|
English
| |
Source (journal)
|
|
|
|
Neurobiology of aging. - Fayetteville, N.Y.
| |
Publication
|
|
|
|
Fayetteville, N.Y.
:
2011
| |
ISSN
|
|
|
|
0197-4580
| |
Volume/pages
|
|
|
|
32
:2
(2011)
, p. 308-312
| |
ISI
|
|
|
|
000285219600012
| |
Full text (Publisher's DOI)
|
|
|
|
| |
Full text (publisher's version - intranet only)
|
|
|
|
| |
|