期刊
NEUROGENETICS
卷 13, 期 3, 页码 281-285出版社
SPRINGER
DOI: 10.1007/s10048-012-0334-9
关键词
Genetics; Rare variants; Parkinson's disease; EIF4G1
资金
- Technische Universitat Munchen, Munich, Germany
- Teva Pharmaceutical Industries Ltd.
- Desitin Pharmaceuticals
- GmbH
- Boehringer Ingelheim
- GE Healthcare
- Michael J. Fox Foundation for Parkinson's Research
- American Parkinson's Disease Association
- Stifterverband fur die Deutsche Wissenschaft
- Hungarian National Innovation Office [TAMOP-4-2-1/B-03/1/KMR-2010-001]
- NINDS Intramural Competitive Fellowship
- Austrian Science Fund [J2783-B09]
- NINDS Intramural Research Program
- German RLS foundation
- Deutsche Forschungsgemeinschaft (DFG)
- Fritz Thyssen Foundation
- Helmholtz Zentrum Munchen, Munich, Germany
- government funding from the German Bundesministerium fur Bildung und Forschung [03.2007-02.2011 FKZ 01ET0713]
Recently, mutations in eukaryotic translation initiation factor 4G1 (EIF4G1) were reported as a rare cause of familial Parkinson's disease (PD). We screened the 33 exons of EIF4G1 by high-resolution melting curve analysis for variants in our Central European cohort of 376 PD cases. Variant frequency was assessed in a total of 975 PD cases and 1,014 general population controls. Eight novel nonsynonymous and four synonymous variants were identified. In our cohort, novel and previously identified nonsynonymous variants were very rare. Although it is possible that our general population controls also comprise individuals who have or could develop PD in the future, the presence of the original mutation (EIF4G1 p.Arg1205 His) in three controls only, raises questions about the causality of this variant with regard to PD.
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