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Schulte, E.C. ; Mollenhauer, B.* ; * ; Bereznai, B.* ; Lichtner, P. ; Haubenberger, D.* ; Pirker, W.* ; Brücke, T.* ; Molnar, M.J.* ; Peters, A. ; Gieger, C. ; Trenkwalder, C.* ; Winkelmann, J.

Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease.

Neurogenetics 13, 281-285 (2012)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Genetics ; Rare Variants ; Parkinson's Disease ; Eif4g1; Mutations
ISSN (print) / ISBN 1364-6745
e-ISSN 1364-6753
Journal Neurogenetics
Quellenangaben Volume: 13, Issue: 3, Pages: 281-285 Article Number: , Supplement: ,
Publisher Springer
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Institute of Epidemiology II (EPI2)
Institute of Genetic Epidemiology (IGE)