ParkinsonCanadaV1, Pmc, Corpus, bibRecord, 000900

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

Identifieur interne : 000900 ( Pmc/Corpus ); précédent : 000899; suivant : 000901

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

Auteurs : Kenya Nishioka ; Manabu Funayama ; Carles Vilari O-Güell ; Kotaro Ogaki ; Yuanzhe Li ; Ryogen Sasaki ; Yasumasa Kokubo ; Shigeki Kuzuhara ; Jennifer M. Kachergus ; Stephanie A. Cobb ; Hirohide Takahashi ; Yoshikuni Mizuno ; Matthew J. Farrer ; Owen A. Ross ; Nobutaka Hattori

Source :

Parkinsonism & related disorders [ 1353-8020 ] ; 2014.

RBID : PMC:4034257

Abstract

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 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 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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4034257

DOI: 10.1016/j.parkreldis.2014.03.004
PubMed: 24704100
PubMed Central: 4034257

Links to Exploration step

PMC:4034257

Le document en format XML

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<author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name>
<affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
</affiliation>
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<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
<affiliation><nlm:aff id="A2">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A3">Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan</nlm:aff>
</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><nlm:aff id="A4">Department of Medical Genetics, University of British Columbia, Vancouver, Canada</nlm:aff>
</affiliation>
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<author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name>
<affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
</affiliation>
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<author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
<affiliation><nlm:aff id="A2">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name>
<affiliation><nlm:aff id="A5">Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie, Japan</nlm:aff>
</affiliation>
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<author><name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name>
<affiliation><nlm:aff id="A5">Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie, Japan</nlm:aff>
</affiliation>
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<author><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name>
<affiliation><nlm:aff id="A6">Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science, Suzuka, Mie, Japan</nlm:aff>
</affiliation>
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<author><name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name>
<affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
</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><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Takahashi, Hirohide" sort="Takahashi, Hirohide" uniqKey="Takahashi H" first="Hirohide" last="Takahashi">Hirohide Takahashi</name>
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</affiliation>
</author>
<author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
<affiliation><nlm:aff id="A2">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
</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><nlm:aff id="A4">Department of Medical Genetics, University of British Columbia, Vancouver, Canada</nlm:aff>
</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><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation><nlm:aff id="A2">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
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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>
<affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
<affiliation><nlm:aff id="A2">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A3">Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan</nlm:aff>
</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><nlm:aff id="A4">Department of Medical Genetics, University of British Columbia, Vancouver, Canada</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name>
<affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
<affiliation><nlm:aff id="A2">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name>
<affiliation><nlm:aff id="A5">Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie, Japan</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name>
<affiliation><nlm:aff id="A5">Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie, Japan</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name>
<affiliation><nlm:aff id="A6">Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science, Suzuka, Mie, Japan</nlm:aff>
</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><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
</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><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Takahashi, Hirohide" sort="Takahashi, Hirohide" uniqKey="Takahashi H" first="Hirohide" last="Takahashi">Hirohide Takahashi</name>
<affiliation><nlm:aff id="A7">Department of Neurology, Tokai University School of Medicine, Kanagawa, Japan</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
<affiliation><nlm:aff id="A2">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
</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><nlm:aff id="A4">Department of Medical Genetics, University of British Columbia, Vancouver, Canada</nlm:aff>
</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><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation><nlm:aff id="A2">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
</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 article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
  <pmc-dir>properties manuscript</pmc-dir>
  <front><journal-meta><journal-id journal-id-type="nlm-journal-id">9513583</journal-id>
<journal-id journal-id-type="pubmed-jr-id">21522</journal-id>
<journal-id journal-id-type="nlm-ta">Parkinsonism Relat Disord</journal-id>
<journal-id journal-id-type="iso-abbrev">Parkinsonism Relat. Disord.</journal-id>
<journal-title-group><journal-title>Parkinsonism & related disorders</journal-title>
</journal-title-group>
<issn pub-type="ppub">1353-8020</issn>
<issn pub-type="epub">1873-5126</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">24704100</article-id>
<article-id pub-id-type="pmc">4034257</article-id>
<article-id pub-id-type="doi">10.1016/j.parkreldis.2014.03.004</article-id>
<article-id pub-id-type="manuscript">NIHMS578319</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Nishioka</surname>
<given-names>Kenya</given-names>
</name>
<degrees>MD PhD</degrees>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Funayama</surname>
<given-names>Manabu</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A2">2</xref>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Vilariño-Güell</surname>
<given-names>Carles</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ogaki</surname>
<given-names>Kotaro</given-names>
</name>
<degrees>MD PhD</degrees>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Li</surname>
<given-names>Yuanzhe</given-names>
</name>
<degrees>MD PhD</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Sasaki</surname>
<given-names>Ryogen</given-names>
</name>
<degrees>MD PhD</degrees>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kokubo</surname>
<given-names>Yasumasa</given-names>
</name>
<degrees>MD PhD</degrees>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kuzuhara</surname>
<given-names>Shigeki</given-names>
</name>
<degrees>MD PhD</degrees>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kachergus</surname>
<given-names>Jennifer M.</given-names>
</name>
<degrees>BSc</degrees>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cobb</surname>
<given-names>Stephanie A</given-names>
</name>
<degrees>BA</degrees>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Takahashi</surname>
<given-names>Hirohide</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mizuno</surname>
<given-names>Yoshikuni</given-names>
</name>
<degrees>MD PhD</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Farrer</surname>
<given-names>Matthew J.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ross</surname>
<given-names>Owen A.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="corresp" rid="CR1">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hattori</surname>
<given-names>Nobutaka</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</aff>
<aff id="A2"><label>2</label>
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</aff>
<aff id="A3"><label>3</label>
Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan</aff>
<aff id="A4"><label>4</label>
Department of Medical Genetics, University of British Columbia, Vancouver, Canada</aff>
<aff id="A5"><label>5</label>
Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie, Japan</aff>
<aff id="A6"><label>6</label>
Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science, Suzuka, Mie, Japan</aff>
<aff id="A7"><label>7</label>
Department of Neurology, Tokai University School of Medicine, Kanagawa, Japan</aff>
<author-notes><corresp id="CR1"><label>*</label>
<bold>Corresponding author's contact information:</bold>
 Owen A. Ross PhD Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, Tel: (904)-953-6280, Fax: (904)-953-7370 <email>ross.owen@mayo.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>17</day>
<month>5</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="epub"><day>18</day>
<month>3</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="ppub"><month>6</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>01</day>
<month>6</month>
<year>2015</year>
</pub-date>
<volume>20</volume>
<issue>6</issue>
<fpage>659</fpage>
<lpage>661</lpage>
<pmc-comment>elocation-id from pubmed: 10.1016/j.parkreldis.2014.03.004</pmc-comment>
      <permissions><copyright-statement>© 2014 Elsevier Ltd. All rights reserved.</copyright-statement>
<copyright-year>2014</copyright-year>
</permissions>
<abstract><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>
</abstract>
<kwd-group><kwd>Parkinson's disease</kwd>
<kwd><italic>EIF4G1</italic>
</kwd>
<kwd>mutation</kwd>
<kwd>genetics</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>

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EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

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