EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?
Copyright policy )EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?
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.
- Sorbonne Paris Cité France
- Sorbonne University France
- Institut National de la Santé et la Recherche Médicale France
- University of Geneva Switzerland
- Centre Hospitalier Universitaire de Nantes France
Male, Parkinson's disease, Eukaryotic Initiation Factor-4G/genetics, DNA Mutational Analysis, 80 and over, MESH: DNA Mutational Analysis, European Continental Ancestry Group/genetics, EIF4G1, MESH: Aged, Aged, 80 and over, MESH: Middle Aged, Genetic Predisposition to Disease/genetics, MESH: Genetic Predisposition to Disease, Parkinson Disease, MESH: Eukaryotic Initiation Factor-4G, MESH: European Continental Ancestry Group, Middle Aged, MESH: Young Adult, Mutation analyses, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, France, Adult, MESH: Mutation, 616.8, Mutation/genetics, 610, White People, Young Adult, 616, Genetics, Humans, Genetic Predisposition to Disease, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Aged, Family Health, MESH: Humans, Parkinson Disease/genetics/pathology, MESH: Adult, MESH: Male, MESH: France, Mutation, MESH: Family Health, Eukaryotic Initiation Factor-4G, MESH: Female, MESH: Parkinson Disease, ddc: ddc:616.8
Male, Parkinson's disease, Eukaryotic Initiation Factor-4G/genetics, DNA Mutational Analysis, 80 and over, MESH: DNA Mutational Analysis, European Continental Ancestry Group/genetics, EIF4G1, MESH: Aged, Aged, 80 and over, MESH: Middle Aged, Genetic Predisposition to Disease/genetics, MESH: Genetic Predisposition to Disease, Parkinson Disease, MESH: Eukaryotic Initiation Factor-4G, MESH: European Continental Ancestry Group, Middle Aged, MESH: Young Adult, Mutation analyses, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, France, Adult, MESH: Mutation, 616.8, Mutation/genetics, 610, White People, Young Adult, 616, Genetics, Humans, Genetic Predisposition to Disease, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Aged, Family Health, MESH: Humans, Parkinson Disease/genetics/pathology, MESH: Adult, MESH: Male, MESH: France, Mutation, MESH: Family Health, Eukaryotic Initiation Factor-4G, MESH: Female, MESH: Parkinson Disease, ddc: ddc:616.8
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