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Title

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

Authors
Lesage, Suzanne
Condroyer, Christel
Klebe, Stephan
Lohmann, Ebba
Durif, Franck
Damier, Philippe
Tison, François
Anheim, Mathieu
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CollaborationWith : Pollak, Pierre
Published in Neurobiology of Aging. 2012, vol. 33, no. 9, p. 2233.e1-2233.e5
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.
Keywords AdultAgedAged, 80 and overDNA Mutational AnalysisEukaryotic Initiation Factor-4G/geneticsEuropean Continental Ancestry Group/geneticsFamily HealthFemaleFranceGenetic Predisposition to Disease/geneticsHumansMaleMiddle AgedMutation/geneticsParkinson Disease/genetics/pathologyYoung Adult
Identifiers
PMID: 22658323
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Research group Maladie de Parkinson (911)
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LESAGE, Suzanne et al. EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?. In: Neurobiology of Aging, 2012, vol. 33, n° 9, p. 2233.e1-2233.e5. https://archive-ouverte.unige.ch/unige:45192

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Deposited on : 2015-01-14

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