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

Suzanne Lesage 1 Christel Condroyer 1 Stephan Klebe 2 Ebba Lohmann 1 Franck Durif 3 Philippe Damier 4 François Tison 5 Mathieu Anheim 6, 7, 8 Aurélie Honoré 1 François Viallet 9 Anne-Marie Bonnet 6, 8 Anne-Marie Ouvrard-Hernandez 10 Marie Vidailhet 6, 8 Alexandra Durr 11 Alexis Brice 11, *
* Corresponding author
1 INSERM UMR_S975
CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière
2 INSERM UMR_S975
CIC AP-HP (pitie-Salpetriere)/inserm, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Department of Neurology
11 INSERM UMR_S975
Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière
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.
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https://www.hal.inserm.fr/inserm-00807449
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Suzanne Lesage, Christel Condroyer, Stephan Klebe, Ebba Lohmann, Franck Durif, et al.. EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?. Neurobiol Aging, 2012, 33 (9), pp.2233.e1-2233.e5. ⟨10.1016/j.neurobiolaging.2012.05.006⟩. ⟨inserm-00807449⟩

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