EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population
Identifieur interne : 001722 ( Ncbi/Merge ); précédent : 001721; suivant : 001723EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population
Auteurs : Kenya Nishioka [États-Unis, Japon] ; Manabu Funayama [Japon] ; Carles Vilari O-Güell [Canada] ; Kotaro Ogaki [États-Unis, Japon] ; Yuanzhe Li [Japon] ; Ryogen Sasaki [Japon] ; Yasumasa Kokubo [Japon] ; Shigeki Kuzuhara [Japon] ; Jennifer M. Kachergus [États-Unis] ; Stephanie A. Cobb [États-Unis] ; Hirohide Takahashi [Japon] ; Yoshikuni Mizuno [Japon] ; Matthew J. Farrer [Canada] ; Owen A. Ross [États-Unis] ; Nobutaka Hattori [Japon]Source :
- Parkinsonism & related disorders [ 1353-8020 ] ; 2014.
English descriptors
- KwdEn :
- Adult, Aged, Asian Continental Ancestry Group (genetics), DNA Mutational Analysis, Eukaryotic Initiation Factor-4G (genetics), Exons (genetics), Female, Genetic Predisposition to Disease (genetics), Humans, Male, Middle Aged, Parkinson Disease (genetics), Point Mutation (genetics), Polyglutamic Acid (genetics).
- MESH :
- chemical , genetics : Eukaryotic Initiation Factor-4G, Polyglutamic Acid.
- genetics : Asian Continental Ancestry Group, Exons, Genetic Predisposition to Disease, Parkinson Disease, Point Mutation.
- Adult, Aged, DNA Mutational Analysis, Female, Humans, Male, Middle Aged.
Abstract
Pathogenic mutations in the
Url:
DOI: 10.1016/j.parkreldis.2014.03.004
PubMed: 24704100
PubMed Central: 4034257
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PMC:4034257Le document en format XML
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<author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
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<series><title level="j">Parkinsonism & related disorders</title>
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<term>Aged</term>
<term>Asian Continental Ancestry Group (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Eukaryotic Initiation Factor-4G (genetics)</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (genetics)</term>
<term>Point Mutation (genetics)</term>
<term>Polyglutamic Acid (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Eukaryotic Initiation Factor-4G</term>
<term>Polyglutamic Acid</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term>
<term>Exons</term>
<term>Genetic Predisposition to Disease</term>
<term>Parkinson Disease</term>
<term>Point Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Humans</term>
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<front><div type="abstract" xml:lang="en"><p id="P1">Pathogenic mutations in the <italic>EIF4G1</italic>
gene were recently reported as a cause of autosomal dominant parkinsonism. To assess the frequency of <italic>EIF4G1</italic>
mutations in the Japanese population we sequenced the entire gene coding region (31 exons) in 95 patients with an apparent autosomal dominant inherited form of Parkinson's disease. We detected three novel point mutations located in a poly-glutamic acid repeat within exon10. These variants were screened through 224 Parkinson's disease cases and 374 normal controls from the Japanese population. We detected the poly-glutamic acid deletion in exon 10 in two additional patients with sporadic Parkinson's disease. Although the <italic>EIF4G1</italic>
variants identified in the present study were not observed in control subjects, co-segregation analyses and population-based screening data suggest they are not pathogenic. In conclusion, we did not identify novel or previously reported pathogenic mutations (including the p.A502V and p.R1205H mutants) within <italic>EIF4G1</italic>
in the Japanese population, thus future studies are warranted to elucidate the role of this gene in Parkinson's disease.</p>
</div>
</front>
</TEI>
<double pmid="24704100"><pmc><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population</title>
<author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name>
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<author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
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<author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name>
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<author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
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<author><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name>
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</author>
<author><name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name>
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<wicri:noRegion>Mie</wicri:noRegion>
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</author>
<author><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name>
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<wicri:regionArea>Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science, Suzuka, Mie</wicri:regionArea>
<wicri:noRegion>Mie</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A" last="Cobb">Stephanie A. Cobb</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Takahashi, Hirohide" sort="Takahashi, Hirohide" uniqKey="Takahashi H" first="Hirohide" last="Takahashi">Hirohide Takahashi</name>
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<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Tokai University School of Medicine, Kanagawa</wicri:regionArea>
<wicri:noRegion>Kanagawa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
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<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
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</affiliation>
</author>
<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation wicri:level="3"><nlm:aff id="A2">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
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</affiliation>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population</title>
<author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name>
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<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
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<author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
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<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver</wicri:regionArea>
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<author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name>
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</affiliation>
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<author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
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<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name>
<affiliation wicri:level="1"><nlm:aff id="A5">Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie</wicri:regionArea>
<wicri:noRegion>Mie</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name>
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<country xml:lang="fr">Japon</country>
<wicri:regionArea>Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie</wicri:regionArea>
<wicri:noRegion>Mie</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science, Suzuka, Mie, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science, Suzuka, Mie</wicri:regionArea>
<wicri:noRegion>Mie</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A" last="Cobb">Stephanie A. Cobb</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Takahashi, Hirohide" sort="Takahashi, Hirohide" uniqKey="Takahashi H" first="Hirohide" last="Takahashi">Hirohide Takahashi</name>
<affiliation wicri:level="1"><nlm:aff id="A7">Department of Neurology, Tokai University School of Medicine, Kanagawa, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Tokai University School of Medicine, Kanagawa</wicri:regionArea>
<wicri:noRegion>Kanagawa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
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<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="1"><nlm:aff id="A4">Department of Medical Genetics, University of British Columbia, Vancouver, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver</wicri:regionArea>
<wicri:noRegion>Vancouver</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation wicri:level="3"><nlm:aff id="A2">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Parkinsonism & related disorders</title>
<idno type="ISSN">1353-8020</idno>
<idno type="eISSN">1873-5126</idno>
<imprint><date when="2014">2014</date>
</imprint>
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<front><div type="abstract" xml:lang="en"><p id="P1">Pathogenic mutations in the <italic>EIF4G1</italic>
gene were recently reported as a cause of autosomal dominant parkinsonism. To assess the frequency of <italic>EIF4G1</italic>
mutations in the Japanese population we sequenced the entire gene coding region (31 exons) in 95 patients with an apparent autosomal dominant inherited form of Parkinson's disease. We detected three novel point mutations located in a poly-glutamic acid repeat within exon10. These variants were screened through 224 Parkinson's disease cases and 374 normal controls from the Japanese population. We detected the poly-glutamic acid deletion in exon 10 in two additional patients with sporadic Parkinson's disease. Although the <italic>EIF4G1</italic>
variants identified in the present study were not observed in control subjects, co-segregation analyses and population-based screening data suggest they are not pathogenic. In conclusion, we did not identify novel or previously reported pathogenic mutations (including the p.A502V and p.R1205H mutants) within <italic>EIF4G1</italic>
in the Japanese population, thus future studies are warranted to elucidate the role of this gene in Parkinson's disease.</p>
</div>
</front>
</TEI>
</pmc>
<pubmed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population.</title>
<author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver</wicri:regionArea>
<wicri:noRegion>Vancouver</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name>
<affiliation wicri:level="1"><nlm:affiliation>Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie</wicri:regionArea>
<wicri:noRegion>Mie</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name>
<affiliation wicri:level="1"><nlm:affiliation>Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie</wicri:regionArea>
<wicri:noRegion>Mie</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science, Suzuka, Mie, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science, Suzuka, Mie</wicri:regionArea>
<wicri:noRegion>Mie</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M" last="Kachergus">Jennifer M. Kachergus</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A" last="Cobb">Stephanie A. Cobb</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Takahashi, Hirohide" sort="Takahashi, Hirohide" uniqKey="Takahashi H" first="Hirohide" last="Takahashi">Hirohide Takahashi</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Tokai University School of Medicine, Kanagawa, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Tokai University School of Medicine, Kanagawa</wicri:regionArea>
<wicri:noRegion>Kanagawa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver</wicri:regionArea>
<wicri:noRegion>Vancouver</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address: ross.owen@mayo.edu.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population.</title>
<author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver</wicri:regionArea>
<wicri:noRegion>Vancouver</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name>
<affiliation wicri:level="1"><nlm:affiliation>Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie</wicri:regionArea>
<wicri:noRegion>Mie</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name>
<affiliation wicri:level="1"><nlm:affiliation>Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie</wicri:regionArea>
<wicri:noRegion>Mie</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science, Suzuka, Mie, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science, Suzuka, Mie</wicri:regionArea>
<wicri:noRegion>Mie</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M" last="Kachergus">Jennifer M. Kachergus</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A" last="Cobb">Stephanie A. Cobb</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Takahashi, Hirohide" sort="Takahashi, Hirohide" uniqKey="Takahashi H" first="Hirohide" last="Takahashi">Hirohide Takahashi</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Tokai University School of Medicine, Kanagawa, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Tokai University School of Medicine, Kanagawa</wicri:regionArea>
<wicri:noRegion>Kanagawa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver</wicri:regionArea>
<wicri:noRegion>Vancouver</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address: ross.owen@mayo.edu.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Parkinsonism & related disorders</title>
<idno type="eISSN">1873-5126</idno>
<imprint><date when="2014" type="published">2014</date>
</imprint>
</series>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Asian Continental Ancestry Group (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Eukaryotic Initiation Factor-4G (genetics)</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (genetics)</term>
<term>Point Mutation (genetics)</term>
<term>Polyglutamic Acid (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Eukaryotic Initiation Factor-4G</term>
<term>Polyglutamic Acid</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term>
<term>Exons</term>
<term>Genetic Predisposition to Disease</term>
<term>Parkinson Disease</term>
<term>Point Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
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<front><div type="abstract" xml:lang="en">Pathogenic mutations in the EIF4G1 gene were recently reported as a cause of autosomal dominant parkinsonism. To assess the frequency of EIF4G1 mutations in the Japanese population we sequenced the entire gene coding region (31 exons) in 95 patients with an apparent autosomal dominant inherited form of Parkinson's disease. We detected three novel point mutations located in a poly-glutamic acid repeat within exon 10. These variants were screened through 224 Parkinson's disease cases and 374 normal controls from the Japanese population. We detected the poly-glutamic acid deletion in exon 10 in two additional patients with sporadic Parkinson's disease. Although the EIF4G1 variants identified in the present study were not observed in control subjects, co-segregation analyses and population-based screening data suggest they are not pathogenic. In conclusion, we did not identify novel or previously reported pathogenic mutations (including the p.A502V and p.R1205H mutants) within EIF4G1 in the Japanese population, thus future studies are warranted to elucidate the role of this gene in Parkinson's disease.</div>
</front>
</TEI>
</pubmed>
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