Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early‐onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients
Identifieur interne : 000472 ( Main/Corpus ); précédent : 000471; suivant : 000473Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early‐onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients
Auteurs : Ana Djarmati ; Katja Hedrich ; Marina Svetel ; Nora Sch Fer ; Vladislava Juric ; Slobodanka Vukosavic ; Robert Hering ; Olaf Riess ; Stanka Romac ; Christine Klein ; Vladimir KosticSource :
- Human Mutation [ 1059-7794 ] ; 2004-05.
English descriptors
Abstract
Mutations in the Parkin (PARK2) and the DJ1 (PARK7) gene cause early‐onset Parkinson disease (EOPD). We tested 75 Serbian EOPD patients for mutations in both genes by conventional mutational screening (SSCP/dHPLC/sequencing) to detect small sequence alterations and by gene dosage studies (quantitative PCR) to reveal deletions or multiplications of one or more exons. A compound heterozygous Parkin mutation (exon deletion and point mutation; [c.836_972del]+[c.1411C>T]; +1 is first nucleotide of GenBank AB009973.1) was identified in a patient who showed a relatively benign course after a disease onset at 41 years. Another case had a heterozygous exon deletion in DJ1 ([c.253_322del]+[?]) and presented with an age at onset of 45 years and a rapid disease course. In conclusion, Parkin mutations are surprisingly rare in our Serbian EOPD sample, suggesting that the mutation rate depends on the ethnic origin of the patients. Although DJ1 mutations appear to be rare, we confirm their role in EOPD and demonstrate the importance of gene dosage studies. © 2004 Wiley‐Liss, Inc.
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DOI: 10.1002/humu.9240
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We tested 75 Serbian EOPD patients for mutations in both genes by conventional mutational screening (SSCP/dHPLC/sequencing) to detect small sequence alterations and by gene dosage studies (quantitative PCR) to reveal deletions or multiplications of one or more exons. A compound heterozygous Parkin mutation (exon deletion and point mutation; [c.836_972del]+[c.1411C>T]; +1 is first nucleotide of GenBank AB009973.1) was identified in a patient who showed a relatively benign course after a disease onset at 41 years. Another case had a heterozygous exon deletion in DJ1 ([c.253_322del]+[?]) and presented with an age at onset of 45 years and a rapid disease course. In conclusion, Parkin mutations are surprisingly rare in our Serbian EOPD sample, suggesting that the mutation rate depends on the ethnic origin of the patients. Although DJ1 mutations appear to be rare, we confirm their role in EOPD and demonstrate the importance of gene dosage studies. © 2004 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Ana Djarmati</name><affiliations><json:string>Departments of Human Genetics, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</json:string></affiliations></json:item><json:item><name>Katja Hedrich</name><affiliations><json:string>Departments of Human Genetics, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Marina Svetel</name><affiliations><json:string>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</json:string></affiliations></json:item><json:item><name>Nora Schäfer</name><affiliations><json:string>Departments of Human Genetics, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Vladislava Juric</name><affiliations><json:string>Faculty of Biology, University of Belgrade, Belgrade, Serbia</json:string></affiliations></json:item><json:item><name>Slobodanka Vukosavic</name><affiliations><json:string>Faculty of Biology, University of Belgrade, Belgrade, Serbia</json:string></affiliations></json:item><json:item><name>Robert Hering</name><affiliations><json:string>Faculty of Biology, University of Belgrade, Belgrade, Serbia</json:string></affiliations></json:item><json:item><name>Olaf Riess</name><affiliations><json:string>Department of Medical Genetics, University of Tübingen, Tübingen, Germany</json:string></affiliations></json:item><json:item><name>Stanka Romac</name><affiliations><json:string>Faculty of Biology, University of Belgrade, Belgrade, Serbia</json:string></affiliations></json:item><json:item><name>Christine Klein</name><affiliations><json:string>Departments of Human Genetics, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Vladimir Kostic</name><affiliations><json:string>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Early‐onset Parkinson disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkin, PARK2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>DJ1, PARK7</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Serbia</value></json:item></subject><articleId><json:string>HUMU9240</json:string></articleId><language><json:string>eng</json:string></language><abstract>Mutations in the Parkin (PARK2) and the DJ1 (PARK7) gene cause early‐onset Parkinson disease (EOPD). We tested 75 Serbian EOPD patients for mutations in both genes by conventional mutational screening (SSCP/dHPLC/sequencing) to detect small sequence alterations and by gene dosage studies (quantitative PCR) to reveal deletions or multiplications of one or more exons. A compound heterozygous Parkin mutation (exon deletion and point mutation; [c.836_972del]+[c.1411C>T]; +1 is first nucleotide of GenBank AB009973.1) was identified in a patient who showed a relatively benign course after a disease onset at 41 years. Another case had a heterozygous exon deletion in DJ1 ([c.253_322del]+[?]) and presented with an age at onset of 45 years and a rapid disease course. In conclusion, Parkin mutations are surprisingly rare in our Serbian EOPD sample, suggesting that the mutation rate depends on the ethnic origin of the patients. 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origin of patients</title><respStmt xml:id="ISTEX-API" resp="Références bibliographiques récupérées via GROBID" name="ISTEX-API (INIST-CNRS)"></respStmt></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2004</date></publicationStmt><notesStmt><note type="content">*Online Citation: Human Mutation, Mutation in Brief #711 (2004) Online http://www3.interscience.wiley.com/homepages/38515/pdf/mutation/711.pdf</note><note type="content">*Communicated by Christine van Broeckhoven</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early‐onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients</title><author><persName><forename type="first">Ana</forename><surname>Djarmati</surname></persName><affiliation>Departments of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</affiliation></author><author><persName><forename type="first">Katja</forename><surname>Hedrich</surname></persName><affiliation>Departments of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Marina</forename><surname>Svetel</surname></persName><affiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</affiliation></author><author><persName><forename type="first">Nora</forename><surname>Schäfer</surname></persName><affiliation>Departments of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Vladislava</forename><surname>Juric</surname></persName><affiliation>Faculty of Biology, University of Belgrade, Belgrade, Serbia</affiliation></author><author><persName><forename type="first">Slobodanka</forename><surname>Vukosavic</surname></persName><affiliation>Faculty of Biology, University of Belgrade, Belgrade, Serbia</affiliation></author><author><persName><forename type="first">Robert</forename><surname>Hering</surname></persName><affiliation>Faculty of Biology, University of Belgrade, Belgrade, Serbia</affiliation></author><author><persName><forename type="first">Olaf</forename><surname>Riess</surname></persName><affiliation>Department of Medical Genetics, University of Tübingen, Tübingen, Germany</affiliation></author><author><persName><forename type="first">Stanka</forename><surname>Romac</surname></persName><affiliation>Faculty of Biology, University of Belgrade, Belgrade, Serbia</affiliation></author><author><persName><forename type="first">Christine</forename><surname>Klein</surname></persName><note type="correspondence"><p>Correspondence: Department of Neurology, University of Lübeck; Ratzeburger Allee 160, 23538 Lübeck, Germany</p></note><affiliation>Departments of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Vladimir</forename><surname>Kostic</surname></persName><affiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</affiliation></author></analytic><monogr><title level="j">Human Mutation</title><title level="j" type="abbrev">Hum. Mutat.</title><idno type="pISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><idno type="DOI">10.1002/(ISSN)1098-1004</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2004-05"></date><biblScope unit="volume">23</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="525">525</biblScope><biblScope unit="page" to="525">525</biblScope></imprint></monogr><idno type="istex">32358C1A5CB6A19B9C5CF5F86AA650F15DD9E70A</idno><idno type="DOI">10.1002/humu.9240</idno><idno type="ArticleID">HUMU9240</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2004</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Mutations in the Parkin (PARK2) and the DJ1 (PARK7) gene cause early‐onset Parkinson disease (EOPD). We tested 75 Serbian EOPD patients for mutations in both genes by conventional mutational screening (SSCP/dHPLC/sequencing) to detect small sequence alterations and by gene dosage studies (quantitative PCR) to reveal deletions or multiplications of one or more exons. A compound heterozygous Parkin mutation (exon deletion and point mutation; [c.836_972del]+[c.1411C>T]; +1 is first nucleotide of GenBank AB009973.1) was identified in a patient who showed a relatively benign course after a disease onset at 41 years. Another case had a heterozygous exon deletion in DJ1 ([c.253_322del]+[?]) and presented with an age at onset of 45 years and a rapid disease course. In conclusion, Parkin mutations are surprisingly rare in our Serbian EOPD sample, suggesting that the mutation rate depends on the ethnic origin of the patients. Although DJ1 mutations appear to be rare, we confirm their role in EOPD and demonstrate the importance of gene dosage studies. © 2004 Wiley‐Liss, Inc.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Early‐onset Parkinson disease</term></item><item><term>Parkin, PARK2</term></item><item><term>DJ1, PARK7</term></item><item><term>Serbia</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Mutation in Brief</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2003-08-31">Received</change><change when="2004-02-18">Registration</change><change when="2004-05">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2016-3-4">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/32358C1A5CB6A19B9C5CF5F86AA650F15DD9E70A/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley component found"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1098-1004</doi><issn type="print">1059-7794</issn><issn type="electronic">1098-1004</issn><idGroup><id type="product" value="HUMU"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="HUMAN MUTATION">Human Mutation</title><title type="short">Hum. Mutat.</title></titleGroup></publicationMeta><publicationMeta level="part" position="50"><doi origin="wiley" registered="yes">10.1002/humu.v23:5</doi><numberingGroup><numbering type="journalVolume" number="23">23</numbering><numbering type="journalIssue">5</numbering></numberingGroup><coverDate startDate="2004-05">May 2004</coverDate></publicationMeta><publicationMeta level="unit" type="shortCommunication" position="24" status="forIssue"><doi origin="wiley" registered="yes">10.1002/humu.9240</doi><idGroup><id type="unit" value="HUMU9240"></id></idGroup><countGroup><count type="pageTotal" number="1"></count></countGroup><titleGroup><title type="articleCategory">Mutation in Brief</title><title type="tocHeading1">Mutations in Brief</title></titleGroup><copyright ownership="publisher">Copyright © 2004 Wiley‐Liss, Inc.</copyright><eventGroup><event type="manuscriptReceived" date="2003-08-31"></event><event type="manuscriptAccepted" date="2004-02-18"></event><event type="firstOnline" date="2004-03-31"></event><event type="publishedOnlineFinalForm" date="2004-03-31"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.2 mode:FullText source:Header result:Header" date="2010-03-06"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-27"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-24"></event></eventGroup><numberingGroup><numbering type="pageFirst">525</numbering><numbering type="pageLast">525</numbering></numberingGroup><correspondenceTo>Department of Neurology, University of Lübeck; Ratzeburger Allee 160, 23538 Lübeck, Germany</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:HUMU.HUMU9240.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="0"></count><count type="referenceTotal" number="0"></count></countGroup><titleGroup><title type="main" xml:lang="en">Detection of <i>Parkin</i> (<i>PARK2</i>) and <i>DJ1</i> (<i>PARK7</i>) mutations in early‐onset Parkinson disease: <i>Parkin</i> mutation frequency depends on ethnic origin of patients<link href="#fn1"></link><link href="#fn2"></link></title><title type="short" xml:lang="en">MUTATION IN BRIEF</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2 #af3"><personName><givenNames>Ana</givenNames><familyName>Djarmati</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Katja</givenNames><familyName>Hedrich</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Marina</givenNames><familyName>Svetel</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Nora</givenNames><familyName>Schäfer</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Vladislava</givenNames><familyName>Juric</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Slobodanka</givenNames><familyName>Vukosavic</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Robert</givenNames><familyName>Hering</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Olaf</givenNames><familyName>Riess</familyName></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Stanka</givenNames><familyName>Romac</familyName></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Christine</givenNames><familyName>Klein</familyName></personName><contactDetails><email normalForm="klein_ch@neuro.mu-luebeck.de">klein_ch@neuro.mu‐luebeck.de</email></contactDetails></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Vladimir</givenNames><familyName>Kostic</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="DE" type="organization"><unparsedAffiliation>Departments of Human Genetics, University of Lübeck, Lübeck, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="DE" type="organization"><unparsedAffiliation>Faculty of Biology, University of Belgrade, Belgrade, Serbia</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="DE" type="organization"><unparsedAffiliation>Department of Medical Genetics, University of Tübingen, Tübingen, Germany</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Early‐onset Parkinson disease</keyword><keyword xml:id="kwd2"><i>Parkin</i>, <i>PARK2</i></keyword><keyword xml:id="kwd3"><i>DJ1</i>, <i>PARK7</i></keyword><keyword xml:id="kwd4">Serbia</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Mutations in the <i>Parkin</i> (<i>PARK2</i>) and the <i>DJ1</i> (<i>PARK7</i>) gene cause early‐onset Parkinson disease (EOPD). We tested 75 Serbian EOPD patients for mutations in both genes by conventional mutational screening (SSCP/dHPLC/sequencing) to detect small sequence alterations and by gene dosage studies (quantitative PCR) to reveal deletions or multiplications of one or more exons. A compound heterozygous Parkin mutation (exon deletion and point mutation; [c.836_972del]+[c.1411C>T]; +1 is first nucleotide of GenBank AB009973.1) was identified in a patient who showed a relatively benign course after a disease onset at 41 years. Another case had a heterozygous exon deletion in <i>DJ1</i> ([c.253_322del]+[?]) and presented with an age at onset of 45 years and a rapid disease course. In conclusion, Parkin mutations are surprisingly rare in our Serbian EOPD sample, suggesting that the mutation rate depends on the ethnic origin of the patients. Although <i>DJ1</i> mutations appear to be rare, we confirm their role in EOPD and demonstrate the importance of gene dosage studies. © 2004 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p><i>Online Citation</i>: <b>Human Mutation</b>, <i>Mutation in Brief #711 (2004) Online</i> <url href="http://www3.interscience.wiley.com/homepages/38515/pdf/mutation/711.pdf">http://www3.interscience.wiley.com/homepages/38515/pdf/mutation/711.pdf</url></p></note><note xml:id="fn2"><p>Communicated by Christine van Broeckhoven</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early‐onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>MUTATION IN BRIEF</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Detection of</title></titleInfo><name type="personal"><namePart type="given">Ana</namePart><namePart type="family">Djarmati</namePart><affiliation>Departments of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Katja</namePart><namePart type="family">Hedrich</namePart><affiliation>Departments of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marina</namePart><namePart type="family">Svetel</namePart><affiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nora</namePart><namePart type="family">Schäfer</namePart><affiliation>Departments of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vladislava</namePart><namePart type="family">Juric</namePart><affiliation>Faculty of Biology, University of Belgrade, Belgrade, Serbia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Slobodanka</namePart><namePart type="family">Vukosavic</namePart><affiliation>Faculty of Biology, University of Belgrade, Belgrade, Serbia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Robert</namePart><namePart type="family">Hering</namePart><affiliation>Faculty of Biology, University of Belgrade, Belgrade, Serbia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Olaf</namePart><namePart type="family">Riess</namePart><affiliation>Department of Medical Genetics, University of Tübingen, Tübingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Stanka</namePart><namePart type="family">Romac</namePart><affiliation>Faculty of Biology, University of Belgrade, Belgrade, Serbia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Klein</namePart><affiliation>Departments of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><description>Correspondence: Department of Neurology, University of Lübeck; Ratzeburger Allee 160, 23538 Lübeck, Germany</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vladimir</namePart><namePart type="family">Kostic</namePart><affiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="brief communication" displayLabel="shortCommunication"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2004-05</dateIssued><dateCaptured encoding="w3cdtf">2003-08-31</dateCaptured><dateValid encoding="w3cdtf">2004-02-18</dateValid><copyrightDate encoding="w3cdtf">2004</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">Mutations in the Parkin (PARK2) and the DJ1 (PARK7) gene cause early‐onset Parkinson disease (EOPD). We tested 75 Serbian EOPD patients for mutations in both genes by conventional mutational screening (SSCP/dHPLC/sequencing) to detect small sequence alterations and by gene dosage studies (quantitative PCR) to reveal deletions or multiplications of one or more exons. A compound heterozygous Parkin mutation (exon deletion and point mutation; [c.836_972del]+[c.1411C>T]; +1 is first nucleotide of GenBank AB009973.1) was identified in a patient who showed a relatively benign course after a disease onset at 41 years. Another case had a heterozygous exon deletion in DJ1 ([c.253_322del]+[?]) and presented with an age at onset of 45 years and a rapid disease course. In conclusion, Parkin mutations are surprisingly rare in our Serbian EOPD sample, suggesting that the mutation rate depends on the ethnic origin of the patients. Although DJ1 mutations appear to be rare, we confirm their role in EOPD and demonstrate the importance of gene dosage studies. © 2004 Wiley‐Liss, Inc.</abstract><note type="content">*Online Citation: Human Mutation, Mutation in Brief #711 (2004) Online http://www3.interscience.wiley.com/homepages/38515/pdf/mutation/711.pdf</note><note type="content">*Communicated by Christine van Broeckhoven</note><subject lang="en"><genre>Keywords</genre><topic>Early‐onset Parkinson disease</topic><topic>Parkin, PARK2</topic><topic>DJ1, PARK7</topic><topic>Serbia</topic></subject><relatedItem type="host"><titleInfo><title>Human Mutation</title></titleInfo><titleInfo type="abbreviated"><title>Hum. Mutat.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Mutation in Brief</topic></subject><identifier type="ISSN">1059-7794</identifier><identifier type="eISSN">1098-1004</identifier><identifier type="DOI">10.1002/(ISSN)1098-1004</identifier><identifier type="PublisherID">HUMU</identifier><part><date>2004</date><detail type="volume"><caption>vol.</caption><number>23</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>525</start><end>525</end><total>1</total></extent></part></relatedItem><identifier type="istex">32358C1A5CB6A19B9C5CF5F86AA650F15DD9E70A</identifier><identifier type="DOI">10.1002/humu.9240</identifier><identifier type="ArticleID">HUMU9240</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2004 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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