Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls
Identifieur interne : 000D01 ( Main/Corpus ); précédent : 000D00; suivant : 000D02Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls
Auteurs : S. Lesage ; E. Lohmann ; F. Tison ; F. Durif ; A. Dürr ; A. BriceSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2008-01.
Abstract
Background: Mutations in the parkin gene cause autosomal recessive early-onset parkinsonism. The effect of single heterozygous mutations in parkin is still unclear. The aim of this study was to evaluate the frequency of exonic parkin variants in a case–control study. Methods: The parkin gene was screened for both point mutations and exon rearrangements in 172 French patients with Parkinson disease (PD) and 170 controls from the same population. Patients with single parkin variants were also screened for PINK1, DJ-1 and LRRK2 exon 41 mutations. Results: 10 exonic sequence variations were identified, including 3 known polymorphisms and 7 rare heterozygous variants, 2 of which were novel. There were significantly more rare heterozygous variants in patients (n = 10) with early-onset PD than in controls (n = 2). Screening of PINK1, DJ-1 and LRRK2 exon 41 in the 10 patients heterozygous for parkin failed to identify a second causative mutation. Conclusion: These results suggest that single parkin mutations increase the risk of early-onset PD, but the possibility of a second parkin mutation cannot be excluded.
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DOI: 10.1136/jmg.2007.051854
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ISTEX:4BF0A695625C18CE4FEF8A6341AC6265165F34F4Le document en format XML
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Tison</name><affiliation><mods:affiliation>Service de Neurologie, Hôpital Du Haut-Lévêque, Pessac, France</mods:affiliation></affiliation></author><author><name sortKey="Durif, F" sort="Durif, F" uniqKey="Durif F" first="F" last="Durif">F. Durif</name><affiliation><mods:affiliation>Service de Neurologie, Hôpital Gabriel Montpied, Clermont-Ferrand, France</mods:affiliation></affiliation></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name><affiliation><mods:affiliation>INSERM UMR S679, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Groupe Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Groupe Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name><affiliation><mods:affiliation>INSERM UMR S679, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Groupe Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Groupe Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Pierre et Marie Curie-Paris VI, UFR, Groupe Pitié-Salpêtrière, Paris, France</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:4BF0A695625C18CE4FEF8A6341AC6265165F34F4</idno><date when="2008" year="2008">2008</date><idno type="doi">10.1136/jmg.2007.051854</idno><idno type="url">https://api.istex.fr/document/4BF0A695625C18CE4FEF8A6341AC6265165F34F4/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">000D01</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls</title><author><name sortKey="Lesage, S" sort="Lesage, S" uniqKey="Lesage S" first="S" last="Lesage">S. Lesage</name><affiliation><mods:affiliation>INSERM UMR S679, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Lohmann, E" sort="Lohmann, E" uniqKey="Lohmann E" first="E" last="Lohmann">E. Lohmann</name><affiliation><mods:affiliation>INSERM UMR S679, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Groupe Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Tison, F" sort="Tison, F" uniqKey="Tison F" first="F" last="Tison">F. Tison</name><affiliation><mods:affiliation>Service de Neurologie, Hôpital Du Haut-Lévêque, Pessac, France</mods:affiliation></affiliation></author><author><name sortKey="Durif, F" sort="Durif, F" uniqKey="Durif F" first="F" last="Durif">F. Durif</name><affiliation><mods:affiliation>Service de Neurologie, Hôpital Gabriel Montpied, Clermont-Ferrand, France</mods:affiliation></affiliation></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name><affiliation><mods:affiliation>INSERM UMR S679, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Groupe Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Groupe Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name><affiliation><mods:affiliation>INSERM UMR S679, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Groupe Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Groupe Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Pierre et Marie Curie-Paris VI, UFR, Groupe Pitié-Salpêtrière, Paris, France</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2008-01">2008-01</date><biblScope unit="volume">45</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="43">43</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">4BF0A695625C18CE4FEF8A6341AC6265165F34F4</idno><idno type="DOI">10.1136/jmg.2007.051854</idno><idno type="href">jmedgenet-45-43.pdf</idno><idno type="ArticleID">mg51854</idno><idno type="PMID">17766365</idno><idno type="local">jmedgenet;45/1/43</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Background: Mutations in the parkin gene cause autosomal recessive early-onset parkinsonism. The effect of single heterozygous mutations in parkin is still unclear. The aim of this study was to evaluate the frequency of exonic parkin variants in a case–control study. Methods: The parkin gene was screened for both point mutations and exon rearrangements in 172 French patients with Parkinson disease (PD) and 170 controls from the same population. Patients with single parkin variants were also screened for PINK1, DJ-1 and LRRK2 exon 41 mutations. Results: 10 exonic sequence variations were identified, including 3 known polymorphisms and 7 rare heterozygous variants, 2 of which were novel. There were significantly more rare heterozygous variants in patients (n = 10) with early-onset PD than in controls (n = 2). Screening of PINK1, DJ-1 and LRRK2 exon 41 in the 10 patients heterozygous for parkin failed to identify a second causative mutation. Conclusion: These results suggest that single parkin mutations increase the risk of early-onset PD, but the possibility of a second parkin mutation cannot be excluded.</div></front></TEI><istex><corpusName>bmj</corpusName><author><json:item><name>S Lesage</name><affiliations><json:string>INSERM UMR S679, Paris, France</json:string></affiliations></json:item><json:item><name>E Lohmann</name><affiliations><json:string>INSERM UMR S679, Paris, France</json:string><json:string>AP-HP, Groupe Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, France</json:string></affiliations></json:item><json:item><name>F Tison</name><affiliations><json:string>Service de Neurologie, Hôpital Du Haut-Lévêque, Pessac, France</json:string></affiliations></json:item><json:item><name>F Durif</name><affiliations><json:string>Service de Neurologie, Hôpital Gabriel Montpied, Clermont-Ferrand, France</json:string></affiliations></json:item><json:item><name>A Dürr</name><affiliations><json:string>INSERM UMR S679, Paris, France</json:string><json:string>AP-HP, Groupe Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, France</json:string><json:string>AP-HP, Groupe Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France</json:string></affiliations></json:item><json:item><name>A Brice</name><affiliations><json:string>INSERM UMR S679, Paris, France</json:string><json:string>AP-HP, Groupe Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, France</json:string><json:string>AP-HP, Groupe Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France</json:string><json:string>Université Pierre et Marie Curie-Paris VI, UFR, Groupe Pitié-Salpêtrière, Paris, France</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Letters to JMG</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Genetic screening / counselling</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Molecular genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Epidemiology</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Background: Mutations in the parkin gene cause autosomal recessive early-onset parkinsonism. The effect of single heterozygous mutations in parkin is still unclear. The aim of this study was to evaluate the frequency of exonic parkin variants in a case–control study. Methods: The parkin gene was screened for both point mutations and exon rearrangements in 172 French patients with Parkinson disease (PD) and 170 controls from the same population. Patients with single parkin variants were also screened for PINK1, DJ-1 and LRRK2 exon 41 mutations. Results: 10 exonic sequence variations were identified, including 3 known polymorphisms and 7 rare heterozygous variants, 2 of which were novel. There were significantly more rare heterozygous variants in patients (n = 10) with early-onset PD than in controls (n = 2). Screening of PINK1, DJ-1 and LRRK2 exon 41 in the 10 patients heterozygous for parkin failed to identify a second causative mutation. Conclusion: These results suggest that single parkin mutations increase the risk of early-onset PD, but the possibility of a second parkin mutation cannot be excluded.</abstract><qualityIndicators><score>5.256</score><pdfVersion>1.2</pdfVersion><pdfPageSize>595.276 x 793.701 pts</pdfPageSize><refBibsNative>false</refBibsNative><keywordCount>5</keywordCount><abstractCharCount>1120</abstractCharCount><pdfWordCount>3228</pdfWordCount><pdfCharCount>21116</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>169</abstractWordCount></qualityIndicators><title>Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls</title><pmid><json:string>17766365</json:string></pmid><corporate><json:item><name>for the French Parkinson’s Disease Genetics Study 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Genetics</title></host><publicationDate>2008</publicationDate><copyrightDate>2008</copyrightDate><doi><json:string>10.1136/jmg.2007.051854</json:string></doi><id>4BF0A695625C18CE4FEF8A6341AC6265165F34F4</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/4BF0A695625C18CE4FEF8A6341AC6265165F34F4/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/4BF0A695625C18CE4FEF8A6341AC6265165F34F4/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/4BF0A695625C18CE4FEF8A6341AC6265165F34F4/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls</title><respStmt xml:id="ISTEX-API" resp="Références bibliographiques récupérées via GROBID" name="ISTEX-API (INIST-CNRS)"></respStmt></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>BMJ Publishing Group Ltd</publisher><availability><p>BMJ</p></availability><date>2007-08-31</date></publicationStmt><notesStmt><note>The French Parkinson’s Disease Genetics Study Group members: Y Agid, A-M Bonnet, M Borg, A Brice, E Broussolle, P Damier, A Destée, A Dürr, F Durif, E Lohmann, M Martinez, C Penet, P Pollak, O Rascol, F Tison, C Tranchant, M Vérin, F Viallet, M Vidailhet</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls</title><author><orgName>for the French Parkinson’s Disease Genetics Study Group*</orgName></author><author><persName><forename type="first">S</forename><surname>Lesage</surname></persName><affiliation>INSERM UMR S679, Paris, France</affiliation></author><author><persName><forename type="first">E</forename><surname>Lohmann</surname></persName><affiliation>INSERM UMR S679, Paris, France</affiliation><affiliation>AP-HP, Groupe Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, France</affiliation></author><author><persName><forename type="first">F</forename><surname>Tison</surname></persName><affiliation>Service de Neurologie, Hôpital Du Haut-Lévêque, Pessac, France</affiliation></author><author><persName><forename type="first">F</forename><surname>Durif</surname></persName><affiliation>Service de Neurologie, Hôpital Gabriel Montpied, Clermont-Ferrand, France</affiliation></author><author><persName><forename type="first">A</forename><surname>Dürr</surname></persName><affiliation>INSERM UMR S679, Paris, France</affiliation><affiliation>AP-HP, Groupe Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, France</affiliation><affiliation>AP-HP, Groupe Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France</affiliation></author><author><persName><forename type="first">A</forename><surname>Brice</surname></persName><affiliation>INSERM UMR S679, Paris, France</affiliation><affiliation>AP-HP, Groupe Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, France</affiliation><affiliation>AP-HP, Groupe Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France</affiliation><affiliation>Université Pierre et Marie Curie-Paris VI, UFR, Groupe Pitié-Salpêtrière, Paris, France</affiliation></author></analytic><monogr><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="pISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2008-01"></date><biblScope unit="volume">45</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="43">43</biblScope></imprint></monogr><idno type="istex">4BF0A695625C18CE4FEF8A6341AC6265165F34F4</idno><idno type="DOI">10.1136/jmg.2007.051854</idno><idno type="href">jmedgenet-45-43.pdf</idno><idno type="ArticleID">mg51854</idno><idno type="PMID">17766365</idno><idno type="local">jmedgenet;45/1/43</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2007-08-31</date></creation><langUsage><language ident="en">en</language></langUsage><abstract><p>Background: Mutations in the parkin gene cause autosomal recessive early-onset parkinsonism. The effect of single heterozygous mutations in parkin is still unclear. The aim of this study was to evaluate the frequency of exonic parkin variants in a case–control study. Methods: The parkin gene was screened for both point mutations and exon rearrangements in 172 French patients with Parkinson disease (PD) and 170 controls from the same population. Patients with single parkin variants were also screened for PINK1, DJ-1 and LRRK2 exon 41 mutations. Results: 10 exonic sequence variations were identified, including 3 known polymorphisms and 7 rare heterozygous variants, 2 of which were novel. There were significantly more rare heterozygous variants in patients (n = 10) with early-onset PD than in controls (n = 2). Screening of PINK1, DJ-1 and LRRK2 exon 41 in the 10 patients heterozygous for parkin failed to identify a second causative mutation. Conclusion: These results suggest that single parkin mutations increase the risk of early-onset PD, but the possibility of a second parkin mutation cannot be excluded.</p></abstract><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Genetic screening / counselling</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Molecular genetics</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Parkinson's disease</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Epidemiology</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2007-08-31">Created</change><change when="2008-01">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2016-3-14">References 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Genet</abbrev-journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn><publisher><publisher-name>BMJ Publishing Group Ltd</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">mg51854</article-id><article-id pub-id-type="doi">10.1136/jmg.2007.051854</article-id><article-id pub-id-type="other">jmedgenet;45/1/43</article-id><article-id pub-id-type="other">jmedgenet;jmg.2007.051854</article-id><article-id pub-id-type="pmid">17766365</article-id><article-id pub-id-type="other">43</article-id><article-id pub-id-type="other">jmg.2007.051854</article-id><article-categories><subj-group subj-group-type="heading"><subject>Letters to JMG</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Genetic screening / counselling</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Molecular genetics</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Parkinson's disease</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Epidemiology</subject></subj-group></article-categories><title-group><article-title>Rare heterozygous <italic>parkin</italic> variants in French early-onset Parkinson disease patients and controls</article-title><alt-title alt-title-type="running-head">Letter to JMG</alt-title></title-group><contrib-group><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Lesage</surname><given-names>S</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Lohmann</surname><given-names>E</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Tison</surname><given-names>F</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Durif</surname><given-names>F</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Dürr</surname><given-names>A</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Brice</surname><given-names>A</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author" xlink:type="simple"><collab xlink:type="simple">for the French Parkinson’s Disease Genetics Study Group<xref ref-type="fn" rid="fn1">*</xref></collab></contrib></contrib-group><aff id="aff1"><label>1</label><addr-line>INSERM UMR S679, Paris, France</addr-line></aff><aff id="aff2"><label>2</label><addr-line>AP-HP, Groupe Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, France</addr-line></aff><aff id="aff3"><label>3</label><addr-line>AP-HP, Groupe Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France</addr-line></aff><aff id="aff4"><label>4</label><addr-line>Université Pierre et Marie Curie-Paris VI, UFR, Groupe Pitié-Salpêtrière, Paris, France</addr-line></aff><aff id="aff5"><label>5</label><addr-line>Service de Neurologie, Hôpital Du Haut-Lévêque, Pessac, France</addr-line></aff><aff id="aff6"><label>6</label><addr-line>Service de Neurologie, Hôpital Gabriel Montpied, Clermont-Ferrand, France</addr-line></aff><author-notes><corresp>Dr A Brice, INSERM UMR 679, Hôpital de la Salpêtrière, 47, Boulevard de l’Hôpital, 75651 Paris cedex 13, France; <email xlink:type="simple">brice@ccr.jussieu.fr</email></corresp><fn id="fn1"><label>*</label><p>The French Parkinson’s Disease Genetics Study Group members: Y Agid, A-M Bonnet, M Borg, A Brice, E Broussolle, P Damier, A Destée, A Dürr, F Durif, E Lohmann, M Martinez, C Penet, P Pollak, O Rascol, F Tison, C Tranchant, M Vérin, F Viallet, M Vidailhet</p></fn></author-notes><pub-date pub-type="ppub"><month>1</month><year>2008</year></pub-date><pub-date pub-type="epub-original"><day>31</day><month>8</month><year>2007</year></pub-date><pub-date pub-type="epub"><day>31</day><month>8</month><year>2007</year></pub-date><volume>45</volume><volume-id pub-id-type="other">45</volume-id><volume-id pub-id-type="other">45</volume-id><issue>1</issue><issue-id pub-id-type="other">jmedgenet;45/1</issue-id><issue-id pub-id-type="other">1</issue-id><issue-id pub-id-type="other">45/1</issue-id><fpage>43</fpage><history><date date-type="received"><day>18</day><month>5</month><year>2007</year></date><date date-type="rev-recd"><day>25</day><month>7</month><year>2007</year></date><date date-type="accepted"><day>6</day><month>8</month><year>2007</year></date></history><permissions><copyright-statement>2008 BMJ Publishing Group Ltd</copyright-statement><copyright-year>2008</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="jmedgenet-45-43.pdf"></self-uri><abstract><sec><title>Background:</title><p>Mutations in the <italic>parkin</italic> gene cause autosomal recessive early-onset parkinsonism. The effect of single heterozygous mutations in <italic>parkin</italic> is still unclear. The aim of this study was to evaluate the frequency of exonic <italic>parkin</italic> variants in a case–control study.</p></sec><sec><title>Methods:</title><p>The <italic>parkin</italic> gene was screened for both point mutations and exon rearrangements in 172 French patients with Parkinson disease (PD) and 170 controls from the same population. Patients with single <italic>parkin</italic> variants were also screened for <italic>PINK1</italic>, <italic>DJ-1</italic> and <italic>LRRK2</italic> exon 41 mutations.</p></sec><sec><title>Results:</title><p>10 exonic sequence variations were identified, including 3 known polymorphisms and 7 rare heterozygous variants, 2 of which were novel. There were significantly more rare heterozygous variants in patients (n = 10) with early-onset PD than in controls (n = 2). Screening of <italic>PINK1</italic>, <italic>DJ-1</italic> and <italic>LRRK2</italic> exon 41 in the 10 patients heterozygous for <italic>parkin</italic> failed to identify a second causative mutation.</p></sec><sec><title>Conclusion:</title><p>These results suggest that single <italic>parkin</italic> mutations increase the risk of early-onset PD, but the possibility of a second <italic>parkin</italic> mutation cannot be excluded.</p></sec></abstract></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls</title></titleInfo><name type="corporate"><namePart>for the French Parkinson’s Disease Genetics Study Group*</namePart></name><name type="personal"><namePart type="given">S</namePart><namePart type="family">Lesage</namePart><affiliation>INSERM UMR S679, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">E</namePart><namePart type="family">Lohmann</namePart><affiliation>INSERM UMR S679, Paris, France</affiliation><affiliation>AP-HP, Groupe Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">F</namePart><namePart type="family">Tison</namePart><affiliation>Service de Neurologie, Hôpital Du Haut-Lévêque, Pessac, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">F</namePart><namePart type="family">Durif</namePart><affiliation>Service de Neurologie, Hôpital Gabriel Montpied, Clermont-Ferrand, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A</namePart><namePart type="family">Dürr</namePart><affiliation>INSERM UMR S679, Paris, France</affiliation><affiliation>AP-HP, Groupe Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, France</affiliation><affiliation>AP-HP, Groupe Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A</namePart><namePart type="family">Brice</namePart><affiliation>INSERM UMR S679, Paris, France</affiliation><affiliation>AP-HP, Groupe Pitié-Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, France</affiliation><affiliation>AP-HP, Groupe Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France</affiliation><affiliation>Université Pierre et Marie Curie-Paris VI, UFR, Groupe Pitié-Salpêtrière, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="research-article"></genre><subject><genre>hwp-journal-coll</genre><topic>Genetic screening / counselling</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Molecular genetics</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Parkinson's disease</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Epidemiology</topic></subject><originInfo><publisher>BMJ Publishing Group Ltd</publisher><dateIssued encoding="w3cdtf">2008-01</dateIssued><dateCreated encoding="w3cdtf">2007-08-31</dateCreated><copyrightDate encoding="w3cdtf">2008</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract>Background: Mutations in the parkin gene cause autosomal recessive early-onset parkinsonism. The effect of single heterozygous mutations in parkin is still unclear. The aim of this study was to evaluate the frequency of exonic parkin variants in a case–control study. Methods: The parkin gene was screened for both point mutations and exon rearrangements in 172 French patients with Parkinson disease (PD) and 170 controls from the same population. Patients with single parkin variants were also screened for PINK1, DJ-1 and LRRK2 exon 41 mutations. Results: 10 exonic sequence variations were identified, including 3 known polymorphisms and 7 rare heterozygous variants, 2 of which were novel. There were significantly more rare heterozygous variants in patients (n = 10) with early-onset PD than in controls (n = 2). Screening of PINK1, DJ-1 and LRRK2 exon 41 in the 10 patients heterozygous for parkin failed to identify a second causative mutation. Conclusion: These results suggest that single parkin mutations increase the risk of early-onset PD, but the possibility of a second parkin mutation cannot be excluded.</abstract><note type="footnotes">The French Parkinson’s Disease Genetics Study Group members: Y Agid, A-M Bonnet, M Borg, A Brice, E Broussolle, P Damier, A Destée, A Dürr, F Durif, E Lohmann, M Martinez, C Penet, P Pollak, O Rascol, F Tison, C Tranchant, M Vérin, F Viallet, M Vidailhet</note><relatedItem type="host"><titleInfo><title>Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>J Med Genet</title></titleInfo><genre type="Journal">journal</genre><identifier type="ISSN">0022-2593</identifier><identifier type="eISSN">1468-6244</identifier><identifier type="PublisherID">jmg</identifier><identifier type="PublisherID-hwp">jmedgenet</identifier><identifier type="PublisherID-nlm-ta">J Med Genet</identifier><part><date>2008</date><detail type="volume"><caption>vol.</caption><number>45</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>43</start></extent></part></relatedItem><identifier type="istex">4BF0A695625C18CE4FEF8A6341AC6265165F34F4</identifier><identifier type="DOI">10.1136/jmg.2007.051854</identifier><identifier type="href">jmedgenet-45-43.pdf</identifier><identifier type="ArticleID">mg51854</identifier><identifier type="PMID">17766365</identifier><identifier type="local">jmedgenet;45/1/43</identifier><accessCondition type="use and reproduction" contentType="copyright">2008 BMJ Publishing Group Ltd</accessCondition><recordInfo><recordContentSource>BMJ</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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