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Open Access Green as soon as Postprint is submitted to ZB.
PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease.
Parkinsonism Relat. Disord. 15, 532-534 (2009)
The GIGYF2 (Grb10-Interacting GYF Protein-2) gene has recently been proposed to be the responsible gene for the PARK11 locus. Ten different putative pathogenic variants were identified in cohorts of Parkinson's disease (PD) patients from Italy and France. Among these variants Asn56Ser and Asn457Thr were found repeatedly. In the present study we screened 669 PD patients (predominantly of central European origin) and 1051 control individuals for the presence of these two variants. Asn56Ser was found in one patient with a positive family history of the disease and in one control individual. The affected sister of the patient did not carry this variant. Asn457Thr was found in one patient, who was exceptional for his Egyptian origin and in three control individuals. This variant was not found in 50 control individuals from Egypt. We conclude that neither of these two variants plays a major role in the pathogenesis of PD in our study population.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
GIGYF2; PARK11; genome-wide scan; linkage analysis; mutations; families; insulin; sample; screen; onset
ISSN (print) / ISBN
1353-8020
e-ISSN
1873-5126
Journal
Parkinsonism & Related Disorders
Quellenangaben
Volume: 15,
Issue: 7,
Pages: 532-534
Publisher
Elsevier
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)