EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?
Identifieur interne : 000836 ( PubMed/Corpus ); précédent : 000835; suivant : 000837EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?
Auteurs : Suzanne Lesage ; Christel Condroyer ; Stephan Klebe ; Ebba Lohmann ; Franck Durif ; Philippe Damier ; François Tison ; Mathieu Anheim ; Aurélie Honoré ; François Viallet ; Anne-Marie Bonnet ; Anne-Marie Ouvrard-Hernandez ; Marie Vidailhet ; Alexandra Durr ; Alexis BriceSource :
- Neurobiology of aging [ 1558-1497 ] ; 2012.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, DNA Mutational Analysis, Eukaryotic Initiation Factor-4G (genetics), European Continental Ancestry Group (genetics), Family Health, Female, France, Genetic Predisposition to Disease (genetics), Humans, Male, Middle Aged, Mutation (genetics), Parkinson Disease (genetics), Parkinson Disease (pathology), Young Adult.
- MESH :
- chemical , genetics : Eukaryotic Initiation Factor-4G.
- geographic : France.
- genetics : European Continental Ancestry Group, Genetic Predisposition to Disease, Mutation, Parkinson Disease.
- pathology : Parkinson Disease.
- Adult, Aged, Aged, 80 and over, DNA Mutational Analysis, Family Health, Female, Humans, Male, Middle Aged, Young Adult.
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.
DOI: 10.1016/j.neurobiolaging.2012.05.006
PubMed: 22658323
Links to Exploration step
pubmed:22658323Le document en format XML
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Lohmann</name></author><author><name sortKey="Durif, Franck" sort="Durif, Franck" uniqKey="Durif F" first="Franck" last="Durif">Franck Durif</name></author><author><name sortKey="Damier, Philippe" sort="Damier, Philippe" uniqKey="Damier P" first="Philippe" last="Damier">Philippe Damier</name></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></author><author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name></author><author><name sortKey="Honore, Aurelie" sort="Honore, Aurelie" uniqKey="Honore A" first="Aurélie" last="Honoré">Aurélie Honoré</name></author><author><name sortKey="Viallet, Francois" sort="Viallet, Francois" uniqKey="Viallet F" first="François" last="Viallet">François Viallet</name></author><author><name sortKey="Bonnet, Anne Marie" sort="Bonnet, Anne Marie" uniqKey="Bonnet A" first="Anne-Marie" 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wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000836</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?</title><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><nlm:affiliation>Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-S975, Inserm, U975, Cnrs, UMR 7225, Hôpital de la Pitié-Salpêtrière, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Condroyer, Christel" sort="Condroyer, Christel" uniqKey="Condroyer C" first="Christel" last="Condroyer">Christel Condroyer</name></author><author><name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name></author><author><name sortKey="Durif, Franck" sort="Durif, Franck" uniqKey="Durif F" first="Franck" last="Durif">Franck Durif</name></author><author><name sortKey="Damier, Philippe" sort="Damier, Philippe" uniqKey="Damier P" first="Philippe" last="Damier">Philippe Damier</name></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></author><author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name></author><author><name sortKey="Honore, Aurelie" sort="Honore, Aurelie" uniqKey="Honore A" first="Aurélie" last="Honoré">Aurélie Honoré</name></author><author><name sortKey="Viallet, Francois" sort="Viallet, Francois" uniqKey="Viallet F" first="François" last="Viallet">François Viallet</name></author><author><name sortKey="Bonnet, Anne Marie" sort="Bonnet, Anne Marie" uniqKey="Bonnet A" first="Anne-Marie" last="Bonnet">Anne-Marie Bonnet</name></author><author><name sortKey="Ouvrard Hernandez, Anne Marie" sort="Ouvrard Hernandez, Anne Marie" uniqKey="Ouvrard Hernandez A" first="Anne-Marie" last="Ouvrard-Hernandez">Anne-Marie Ouvrard-Hernandez</name></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author></analytic><series><title level="j">Neurobiology of aging</title><idno type="eISSN">1558-1497</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>DNA Mutational Analysis</term><term>Eukaryotic Initiation Factor-4G (genetics)</term><term>European Continental Ancestry Group (genetics)</term><term>Family Health</term><term>Female</term><term>France</term><term>Genetic Predisposition to Disease (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (pathology)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Eukaryotic Initiation Factor-4G</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>France</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>European Continental Ancestry Group</term><term>Genetic Predisposition to Disease</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">22658323</PMID><DateCreated><Year>2012</Year><Month>07</Month><Day>06</Day></DateCreated><DateCompleted><Year>2012</Year><Month>11</Month><Day>29</Day></DateCompleted><DateRevised><Year>2012</Year><Month>07</Month><Day>06</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1558-1497</ISSN><JournalIssue CitedMedium="Internet"><Volume>33</Volume><Issue>9</Issue><PubDate><Year>2012</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Neurobiology of aging</Title><ISOAbbreviation>Neurobiol. Aging</ISOAbbreviation></Journal><ArticleTitle>EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?</ArticleTitle><Pagination><MedlinePgn>2233.e1-2233.e5</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.neurobiolaging.2012.05.006</ELocationID><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>Copyright © 2012 Elsevier Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lesage</LastName><ForeName>Suzanne</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-S975, Inserm, U975, Cnrs, UMR 7225, Hôpital de la Pitié-Salpêtrière, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Condroyer</LastName><ForeName>Christel</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Klebe</LastName><ForeName>Stephan</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Lohmann</LastName><ForeName>Ebba</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Durif</LastName><ForeName>Franck</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Damier</LastName><ForeName>Philippe</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Tison</LastName><ForeName>François</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Anheim</LastName><ForeName>Mathieu</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Honoré</LastName><ForeName>Aurélie</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Viallet</LastName><ForeName>François</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Bonnet</LastName><ForeName>Anne-Marie</ForeName><Initials>AM</Initials></Author><Author ValidYN="Y"><LastName>Ouvrard-Hernandez</LastName><ForeName>Anne-Marie</ForeName><Initials>AM</Initials></Author><Author ValidYN="Y"><LastName>Vidailhet</LastName><ForeName>Marie</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Durr</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Alexis</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><CollectiveName>French Parkinson's Disease Genetics Study Group</CollectiveName></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2012</Year><Month>06</Month><Day>01</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Neurobiol Aging</MedlineTA><NlmUniqueID>8100437</NlmUniqueID><ISSNLinking>0197-4580</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C113920">EIF4G1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D039603">Eukaryotic Initiation Factor-4G</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000369" MajorTopicYN="N">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D039603" MajorTopicYN="N">Eukaryotic Initiation Factor-4G</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D044465" MajorTopicYN="N">European Continental Ancestry Group</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005192" MajorTopicYN="Y">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005602" MajorTopicYN="N" Type="Geographic">France</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList><InvestigatorList><Investigator ValidYN="Y"><LastName>Agid</LastName><ForeName>Y</ForeName><Initials>Y</Initials></Investigator><Investigator ValidYN="Y"><LastName>Anheim</LastName><ForeName>M</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Bonnet</LastName><ForeName>A -M</ForeName><Initials>A-</Initials></Investigator><Investigator ValidYN="Y"><LastName>Borg</LastName><ForeName>M</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Brice</LastName><ForeName>A</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Broussolle</LastName><ForeName>E</ForeName><Initials>E</Initials></Investigator><Investigator ValidYN="Y"><LastName>Corvol</LastName><ForeName>J -C</ForeName><Initials>J-</Initials></Investigator><Investigator ValidYN="Y"><LastName>Damier</LastName><ForeName>P</ForeName><Initials>P</Initials></Investigator><Investigator ValidYN="Y"><LastName>Destée</LastName><ForeName>A</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Dürr</LastName><ForeName>A</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Durif</LastName><ForeName>F</ForeName><Initials>F</Initials></Investigator><Investigator ValidYN="Y"><LastName>Klebe</LastName><ForeName>S</ForeName><Initials>S</Initials></Investigator><Investigator ValidYN="Y"><LastName>Krack</LastName><ForeName>P</ForeName><Initials>P</Initials></Investigator><Investigator ValidYN="Y"><LastName>Lesage</LastName><ForeName>S</ForeName><Initials>S</Initials></Investigator><Investigator ValidYN="Y"><LastName>Lohmann</LastName><ForeName>E</ForeName><Initials>E</Initials></Investigator><Investigator 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