Genetic analysis of the FUS/TLS gene in essential tremor
Identifieur interne : 000892 ( Pmc/Corpus ); précédent : 000891; suivant : 000893Genetic analysis of the FUS/TLS gene in essential tremor
Auteurs : N. Parmalee ; K. Mirzozoda ; S. Kisselev ; N. Merner ; P. Dion ; G. Rouleau ; L. Clark ; E. D. LouisSource :
- European journal of neurology [ 1351-5101 ] ; 2012.
Abstract
Although essential tremor (ET) has a genetic basis, specific genes have not been identified. Recently, in a large ET family (FET1) from Quebec, a non-sense mutation (p.Q290X) in the amyotrophic lateral sclerosis (ALS) gene fused in sarcoma/translated in liposarcoma (
Two-hundred and fifty-nine ET cases and 262 controls were enrolled in a study at Columbia University. We performed a comprehensive analysis of the
Our study suggests that pathogenic mutations in
Url:
DOI: 10.1111/ene.12023
PubMed: 23114103
PubMed Central: 4862621
Links to Exploration step
PMC:4862621Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic analysis of the <italic>FUS</italic>/<italic>TLS</italic> gene in essential tremor</title><author><name sortKey="Parmalee, N" sort="Parmalee, N" uniqKey="Parmalee N" first="N." last="Parmalee">N. Parmalee</name><affiliation><nlm:aff id="A1">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Mirzozoda, K" sort="Mirzozoda, K" uniqKey="Mirzozoda K" first="K." last="Mirzozoda">K. Mirzozoda</name><affiliation><nlm:aff id="A1">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Kisselev, S" sort="Kisselev, S" uniqKey="Kisselev S" first="S." last="Kisselev">S. Kisselev</name><affiliation><nlm:aff id="A2">Department of Pathology and Cell Biology, Columbia University, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Merner, N" sort="Merner, N" uniqKey="Merner N" first="N." last="Merner">N. Merner</name><affiliation><nlm:aff id="A3">Centre of Excellence in Neurosciences, CHUM Research Center, Department of Medicine, Université de Montréal, Montréal, QC</nlm:aff></affiliation></author><author><name sortKey="Dion, P" sort="Dion, P" uniqKey="Dion P" first="P." last="Dion">P. Dion</name><affiliation><nlm:aff id="A3">Centre of Excellence in Neurosciences, CHUM Research Center, Department of Medicine, Université de Montréal, Montréal, QC</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Department of Pathology and Cellular Biology, Université de Montréal, Montréal, QC</nlm:aff></affiliation></author><author><name sortKey="Rouleau, G" sort="Rouleau, G" uniqKey="Rouleau G" first="G." last="Rouleau">G. Rouleau</name><affiliation><nlm:aff id="A3">Centre of Excellence in Neurosciences, CHUM Research Center, Department of Medicine, Université de Montréal, Montréal, QC</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Research Center, CHU Sainte-Justine, Montréal, QC</nlm:aff></affiliation><affiliation><nlm:aff id="A6">CHUM and the Department of Medicine, Université de Montréal, Montréal, QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Clark, L" sort="Clark, L" uniqKey="Clark L" first="L." last="Clark">L. Clark</name><affiliation><nlm:aff id="A1">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Pathology and Cell Biology, Columbia University, New York, NY, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A7">Center for Human Genetics, Columbia University, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Louis, E D" sort="Louis, E D" uniqKey="Louis E" first="E. D." last="Louis">E. D. Louis</name><affiliation><nlm:aff id="A1">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A8">Gertrude H. Sergievsky Center, Columbia University, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Department of Neurology, Mailman School of Public Health, Columbia University, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23114103</idno><idno type="pmc">4862621</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862621</idno><idno type="RBID">PMC:4862621</idno><idno type="doi">10.1111/ene.12023</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">000892</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000892</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genetic analysis of the <italic>FUS</italic>/<italic>TLS</italic> gene in essential tremor</title><author><name sortKey="Parmalee, N" sort="Parmalee, N" uniqKey="Parmalee N" first="N." last="Parmalee">N. Parmalee</name><affiliation><nlm:aff id="A1">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Mirzozoda, K" sort="Mirzozoda, K" uniqKey="Mirzozoda K" first="K." last="Mirzozoda">K. Mirzozoda</name><affiliation><nlm:aff id="A1">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Kisselev, S" sort="Kisselev, S" uniqKey="Kisselev S" first="S." last="Kisselev">S. Kisselev</name><affiliation><nlm:aff id="A2">Department of Pathology and Cell Biology, Columbia University, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Merner, N" sort="Merner, N" uniqKey="Merner N" first="N." last="Merner">N. Merner</name><affiliation><nlm:aff id="A3">Centre of Excellence in Neurosciences, CHUM Research Center, Department of Medicine, Université de Montréal, Montréal, QC</nlm:aff></affiliation></author><author><name sortKey="Dion, P" sort="Dion, P" uniqKey="Dion P" first="P." last="Dion">P. Dion</name><affiliation><nlm:aff id="A3">Centre of Excellence in Neurosciences, CHUM Research Center, Department of Medicine, Université de Montréal, Montréal, QC</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Department of Pathology and Cellular Biology, Université de Montréal, Montréal, QC</nlm:aff></affiliation></author><author><name sortKey="Rouleau, G" sort="Rouleau, G" uniqKey="Rouleau G" first="G." last="Rouleau">G. Rouleau</name><affiliation><nlm:aff id="A3">Centre of Excellence in Neurosciences, CHUM Research Center, Department of Medicine, Université de Montréal, Montréal, QC</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Research Center, CHU Sainte-Justine, Montréal, QC</nlm:aff></affiliation><affiliation><nlm:aff id="A6">CHUM and the Department of Medicine, Université de Montréal, Montréal, QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Clark, L" sort="Clark, L" uniqKey="Clark L" first="L." last="Clark">L. Clark</name><affiliation><nlm:aff id="A1">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Pathology and Cell Biology, Columbia University, New York, NY, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A7">Center for Human Genetics, Columbia University, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Louis, E D" sort="Louis, E D" uniqKey="Louis E" first="E. D." last="Louis">E. D. Louis</name><affiliation><nlm:aff id="A1">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A8">Gertrude H. Sergievsky Center, Columbia University, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Department of Neurology, Mailman School of Public Health, Columbia University, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA</nlm:aff></affiliation></author></analytic><series><title level="j">European journal of neurology</title><idno type="ISSN">1351-5101</idno><idno type="eISSN">1468-1331</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background and purpose</title><p id="P1">Although essential tremor (ET) has a genetic basis, specific genes have not been identified. Recently, in a large ET family (FET1) from Quebec, a non-sense mutation (p.Q290X) in the amyotrophic lateral sclerosis (ALS) gene fused in sarcoma/translated in liposarcoma (<italic>FUS</italic>/<italic>TLS</italic>) was identified by exome sequencing. No confirmatory studies have been published.</p></sec><sec id="S2"><title>Methods</title><p id="P2">Two-hundred and fifty-nine ET cases and 262 controls were enrolled in a study at Columbia University. We performed a comprehensive analysis of the <italic>FUS</italic>/<italic>TLS</italic> gene by sequencing all exons in a subsample of 116 ET cases with early-onset (≤40 years) ET. We evaluated an association between ET and SNPs in the <italic>FUS</italic>/<italic>TLS</italic> gene by genotyping four haplotype tagging SNPs in all 259 ET cases and 262 controls. Additionally, seven variants associated with ALS, two variants of unknown pathogenicity detected in ALS cases, eight mis-sense variants predicted to be damaging, and six rare variants were genotyped in these 259 ET cases and 262 controls.</p></sec><sec id="S3"><title>Results</title><p id="P3"><italic>FUS</italic>/<italic>TLS</italic> mutations previously reported in ALS, the FET1 family, or novel mutations were not found in any of the 116 early-onset ET cases. In the case–control analyses, although the power of the performed associations was limited, no significant association between tagging SNPs in <italic>FUS</italic>/<italic>TLS</italic> and ET was observed, and none of the analyzed SNPs showed evidence of association with ET.</p></sec><sec id="S4"><title>Conclusion</title><p id="P4">Our study suggests that pathogenic mutations in <italic>FUS</italic>/<italic>TLS</italic> are rare in a sample of early-onset ET cases in North America. We did not find evidence that the <italic>FUS</italic>/<italic>TLS</italic> gene is a risk factor for ET.</p></sec></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">9506311</journal-id><journal-id journal-id-type="pubmed-jr-id">20870</journal-id><journal-id journal-id-type="nlm-ta">Eur J Neurol</journal-id><journal-id journal-id-type="iso-abbrev">Eur. J. Neurol.</journal-id><journal-title-group><journal-title>European journal of neurology</journal-title></journal-title-group><issn pub-type="ppub">1351-5101</issn><issn pub-type="epub">1468-1331</issn></journal-meta><article-meta><article-id pub-id-type="pmid">23114103</article-id><article-id pub-id-type="pmc">4862621</article-id><article-id pub-id-type="doi">10.1111/ene.12023</article-id><article-id pub-id-type="manuscript">NIHMS509471</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Genetic analysis of the <italic>FUS</italic>/<italic>TLS</italic> gene in essential tremor</article-title></title-group><contrib-group><contrib contrib-type="author" equal-contrib="yes"><name><surname>Parmalee</surname><given-names>N.</given-names></name><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Mirzozoda</surname><given-names>K.</given-names></name><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Kisselev</surname><given-names>S.</given-names></name><xref ref-type="aff" rid="A2">b</xref></contrib><contrib contrib-type="author"><name><surname>Merner</surname><given-names>N.</given-names></name><xref ref-type="aff" rid="A3">c</xref></contrib><contrib contrib-type="author"><name><surname>Dion</surname><given-names>P.</given-names></name><xref ref-type="aff" rid="A3">c</xref><xref ref-type="aff" rid="A4">d</xref></contrib><contrib contrib-type="author"><name><surname>Rouleau</surname><given-names>G.</given-names></name><xref ref-type="aff" rid="A3">c</xref><xref ref-type="aff" rid="A5">e</xref><xref ref-type="aff" rid="A6">f</xref></contrib><contrib contrib-type="author"><name><surname>Clark</surname><given-names>L.</given-names></name><xref ref-type="aff" rid="A1">a</xref><xref ref-type="aff" rid="A2">b</xref><xref ref-type="aff" rid="A7">g</xref></contrib><contrib contrib-type="author"><name><surname>Louis</surname><given-names>E. D.</given-names></name><xref ref-type="aff" rid="A1">a</xref><xref ref-type="aff" rid="A8">h</xref><xref ref-type="aff" rid="A9">i</xref><xref ref-type="aff" rid="A10">j</xref></contrib></contrib-group><aff id="A1"><label>a</label>Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University, New York, NY</aff><aff id="A2"><label>b</label>Department of Pathology and Cell Biology, Columbia University, New York, NY, USA</aff><aff id="A3"><label>c</label>Centre of Excellence in Neurosciences, CHUM Research Center, Department of Medicine, Université de Montréal, Montréal, QC</aff><aff id="A4"><label>d</label>Department of Pathology and Cellular Biology, Université de Montréal, Montréal, QC</aff><aff id="A5"><label>e</label>Research Center, CHU Sainte-Justine, Montréal, QC</aff><aff id="A6"><label>f</label>CHUM and the Department of Medicine, Université de Montréal, Montréal, QC, Canada</aff><aff id="A7"><label>g</label>Center for Human Genetics, Columbia University, New York, NY</aff><aff id="A8"><label>h</label>Gertrude H. Sergievsky Center, Columbia University, New York, NY</aff><aff id="A9"><label>i</label>Department of Neurology, Mailman School of Public Health, Columbia University, New York, NY</aff><aff id="A10"><label>j</label>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA</aff><author-notes><corresp id="CR1">Correspondence: L. Clark, Department of Pathology and Cell Biology, Taub Institute for Alzheimer Disease and Aging Research, Columbia University Medical Center, P&S12-420A, 630 West 168th Street, New York, NY 10044, USA (tel.: 212-304-5268; fax: 212-304-5590; <email>lc654@columbia.edu</email>).</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>28</day><month>8</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>01</day><month>11</month><year>2012</year></pub-date><pub-date pub-type="ppub"><month>3</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>10</day><month>5</month><year>2016</year></pub-date><volume>20</volume><issue>3</issue><fpage>534</fpage><lpage>539</lpage><pmc-comment>elocation-id from pubmed: 10.1111/ene.12023</pmc-comment>
<abstract><sec id="S1"><title>Background and purpose</title><p id="P1">Although essential tremor (ET) has a genetic basis, specific genes have not been identified. Recently, in a large ET family (FET1) from Quebec, a non-sense mutation (p.Q290X) in the amyotrophic lateral sclerosis (ALS) gene fused in sarcoma/translated in liposarcoma (<italic>FUS</italic>/<italic>TLS</italic>) was identified by exome sequencing. No confirmatory studies have been published.</p></sec><sec id="S2"><title>Methods</title><p id="P2">Two-hundred and fifty-nine ET cases and 262 controls were enrolled in a study at Columbia University. We performed a comprehensive analysis of the <italic>FUS</italic>/<italic>TLS</italic> gene by sequencing all exons in a subsample of 116 ET cases with early-onset (≤40 years) ET. We evaluated an association between ET and SNPs in the <italic>FUS</italic>/<italic>TLS</italic> gene by genotyping four haplotype tagging SNPs in all 259 ET cases and 262 controls. Additionally, seven variants associated with ALS, two variants of unknown pathogenicity detected in ALS cases, eight mis-sense variants predicted to be damaging, and six rare variants were genotyped in these 259 ET cases and 262 controls.</p></sec><sec id="S3"><title>Results</title><p id="P3"><italic>FUS</italic>/<italic>TLS</italic> mutations previously reported in ALS, the FET1 family, or novel mutations were not found in any of the 116 early-onset ET cases. In the case–control analyses, although the power of the performed associations was limited, no significant association between tagging SNPs in <italic>FUS</italic>/<italic>TLS</italic> and ET was observed, and none of the analyzed SNPs showed evidence of association with ET.</p></sec><sec id="S4"><title>Conclusion</title><p id="P4">Our study suggests that pathogenic mutations in <italic>FUS</italic>/<italic>TLS</italic> are rare in a sample of early-onset ET cases in North America. We did not find evidence that the <italic>FUS</italic>/<italic>TLS</italic> gene is a risk factor for ET.</p></sec></abstract><kwd-group><kwd>candidate genes</kwd><kwd>case–control study</kwd><kwd>essential tremor</kwd><kwd>FUS/TLS</kwd><kwd>sequencing</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000892 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 000892 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Canada
|area= ParkinsonCanadaV1
|flux= Pmc
|étape= Corpus
|type= RBID
|clé= PMC:4862621
|texte= Genetic analysis of the FUS/TLS gene in essential tremor
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/RBID.i -Sk "pubmed:23114103" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd \
| NlmPubMed2Wicri -a ParkinsonCanadaV1
| This area was generated with Dilib version V0.6.29. |  |