EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?

Abstract Mutations in the eukaryotic translation initiation factor 4-gamma ( EIF4G1 ) gene, encoding a component of the eIF4F translation initiation complex, were recently reported as a possible cause for the autosomal dominant form of Parkinson's disease (PD). Here, we describe the screening o...

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Bibliographic Details
Published in:Neurobiology of aging 2012-09, Vol.33 (9), p.2233.e1-2233.e5
Main Authors: Lesage, Suzanne, Condroyer, Christel, Klebe, Stephan, Lohmann, Ebba, Durif, Franck, Damier, Philippe, Tison, François, Anheim, Mathieu, Honoré, Aurélie, Viallet, François, Bonnet, Anne-Marie, Ouvrard-Hernandez, Anne-Marie, Vidailhet, Marie, Durr, Alexandra, Brice, Alexis
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Aging
DNA Mutational Analysis
EIF4G1
Eukaryotic Initiation Factor-4G - genetics
European Continental Ancestry Group - genetics
Family Health
Female
France
Genetic Predisposition to Disease - genetics
Genetics
Humans
Internal Medicine
Male
Middle Aged
Mutation - genetics
Mutation analyses
Neurology
Parkinson Disease - genetics
Parkinson Disease - pathology
Parkinson's disease
Young Adult
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Summary:Abstract Mutations in the eukaryotic translation initiation factor 4-gamma ( EIF4G1 ) gene, encoding a component of the eIF4F translation initiation complex, were recently reported as a possible cause for the autosomal dominant form of Parkinson's disease (PD). Here, we describe the screening of all 31 EIF4G1 coding exons in a series of 251 index cases with autosomal dominant PD, mostly of French origin and in 236 European control subjects. We identified 12 rare coding variants (either nonsynonymous amino acid substitutions or in frame deletions/insertions), including 6 variants present only in cases and 3 in controls. Segregation was possible only for 1 variant (p.E462delInsGK) that was found in 2 affected siblings. In addition, we found 2 previously reported pathogenic variants in 2 isolated patients (p.G686C) and in a control subject (p.R1197W). These data do not support the pathogenicity of several EIF4G1 variants in PD, at least in the French population.
ISSN:0197-4580
1558-1497
DOI:10.1016/j.neurobiolaging.2012.05.006