Prevalence of THAP1 sequence variants in German patients with primary dystonia
Identifieur interne : 000370 ( Istex/Corpus ); précédent : 000369; suivant : 000371Prevalence of THAP1 sequence variants in German patients with primary dystonia
Auteurs : Anne S. Söhn ; Nicola Glöckle ; Andrea Duarte Doetzer ; Günther Deuschl ; Ute Felbor ; Helge R. Topka ; Ludger Schöls ; Olaf Riess ; Peter Bauer ; Ulrich Müller ; Kathrin GrundmannSource :
- Movement Disorders [ 0885-3185 ] ; 2010-09-15.
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- KwdEn :
Abstract
Primary dystonias are a clinically and genetically heterogeneous group of movement disorders, but only for two of them, i.e., dystonia 1 and dystonia 6, the disease causing gene has been identified. Dystonia 1 is characterized by an early onset and is caused by a mutation in the TOR1A gene. Only recently, mutations in THAP1 have been shown to be the cause of DYT6 dystonia. We analyzed 610 patients with various forms of dystonia for sequence variants in the THAP1 gene by means of high resolution melting to delineate the prevalence of sequence variants and phenotypic variability. We identified seven sequence variants in patients and one sequence variant in a control. The sequence variants were not detected in 537 healthy controls. Four patients present with generalized dystonia with speech involvement of early onset, another three patients suffered exclusively from cervical dystonia of adult onset. These findings suggest that THAP1 sequence variations seem to be associated with different ages of onset and distribution of symptoms. Consequently, the phenotypic spectrum might be broader than previously assumed. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23207
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href="file:MDS.MDS23207.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="17"></count><count type="wordTotal" number="3040"></count></countGroup><titleGroup><title type="main" xml:lang="en">Prevalence of <i>THAP1</i> sequence variants in German patients with primary dystonia<link href="#fn1"></link></title><title type="short" xml:lang="en">THAP1 Sequence Variants in Primary Dystonia</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" noteRef="#fn2"><personName><givenNames>Anne S.</givenNames><familyName>Söhn</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1" noteRef="#fn2"><personName><givenNames>Nicola</givenNames><familyName>Glöckle</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Andrea Duarte</givenNames><familyName>Doetzer</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Günther</givenNames><familyName>Deuschl</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Ute</givenNames><familyName>Felbor</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Helge R.</givenNames><familyName>Topka</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Ludger</givenNames><familyName>Schöls</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Olaf</givenNames><familyName>Riess</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Peter</givenNames><familyName>Bauer</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Ulrich</givenNames><familyName>Müller</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Kathrin</givenNames><familyName>Grundmann</familyName><degrees>MD</degrees></personName><contactDetails><email normalForm="kathrin.grundmann@med.uni-tuebingen.de">kathrin.grundmann@med.uni‐tuebingen.de</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="DE" type="organization"><unparsedAffiliation>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen, Tübingen, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, University of Kiel, Kiel, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="DE" type="organization"><unparsedAffiliation>Institute of Human Genetics, University of Greifswald, Greifswald, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology and Clinical Neurophysiology, Academic Hospital Bogenhausen, Technical University of Munich, Munich, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurodegenerative Diseases, Hertie‐Institute for Clinical Brain Research, University of Tuebingen, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="DE" type="organization"><unparsedAffiliation>Institute of Human Genetics, Justus‐Liebig‐University, Giessen, Germany</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">dystonia</keyword><keyword xml:id="kwd2">THAP1</keyword><keyword xml:id="kwd3">high‐resolution melting</keyword><keyword xml:id="kwd4">DYT6</keyword></keywordGroup><supportingInformation><p> Additional Supporting Information may be found in the online version of this article. </p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23207:MDS_23207_sm_SuppFig1"></mediaResource><caption>Supporting Information Figure 1.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23207:MDS_23207_sm_SuppFig2"></mediaResource><caption>Supporting Information Figure 2.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23207:MDS_23207_sm_SuppTable1"></mediaResource><caption>Supporting Information Table 1.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23207:MDS_23207_sm_SuppMaterials"></mediaResource><caption>Supporting Information Materials.</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Primary dystonias are a clinically and genetically heterogeneous group of movement disorders, but only for two of them, i.e., dystonia 1 and dystonia 6, the disease causing gene has been identified. Dystonia 1 is characterized by an early onset and is caused by a mutation in the <i>TOR1A</i> gene. Only recently, mutations in <i>THAP1</i> have been shown to be the cause of DYT6 dystonia. We analyzed 610 patients with various forms of dystonia for sequence variants in the <i>THAP1</i> gene by means of high resolution melting to delineate the prevalence of sequence variants and phenotypic variability. We identified seven sequence variants in patients and one sequence variant in a control. The sequence variants were not detected in 537 healthy controls. Four patients present with generalized dystonia with speech involvement of early onset, another three patients suffered exclusively from cervical dystonia of adult onset. These findings suggest that <i>THAP1</i> sequence variations seem to be associated with different ages of onset and distribution of symptoms. Consequently, the phenotypic spectrum might be broader than previously assumed. © 2010 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: Nothing to report.</p></note><note xml:id="fn2"><p>The first two authors contributed equally to this work.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Prevalence of THAP1 sequence variants in German patients with primary dystonia</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>THAP1 Sequence Variants in Primary Dystonia</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Prevalence of THAP1 sequence variants in German patients with primary dystonia</title></titleInfo><name type="personal"><namePart type="given">Anne S.</namePart><namePart type="family">Söhn</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen, Tübingen, Germany</affiliation><description>The first two authors contributed equally to this work.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nicola</namePart><namePart type="family">Glöckle</namePart><affiliation>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen, Tübingen, Germany</affiliation><description>The first two authors contributed equally to this work.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrea Duarte</namePart><namePart type="family">Doetzer</namePart><affiliation>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen, Tübingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Günther</namePart><namePart type="family">Deuschl</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Kiel, Kiel, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ute</namePart><namePart type="family">Felbor</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Human Genetics, University of Greifswald, Greifswald, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Helge R.</namePart><namePart type="family">Topka</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology and Clinical Neurophysiology, Academic Hospital Bogenhausen, Technical University of Munich, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ludger</namePart><namePart type="family">Schöls</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurodegenerative Diseases, Hertie‐Institute for Clinical Brain Research, University of Tuebingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Olaf</namePart><namePart type="family">Riess</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen, Tübingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter</namePart><namePart type="family">Bauer</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen, Tübingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ulrich</namePart><namePart type="family">Müller</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Human Genetics, Justus‐Liebig‐University, Giessen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kathrin</namePart><namePart type="family">Grundmann</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen, Tübingen, Germany</affiliation><affiliation>Institute of Human Genetics, University of Tübingen, Calwerstrasse 7, D‐72076 Tübingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2010-09-15</dateIssued><dateCaptured encoding="w3cdtf">2010-01-28</dateCaptured><dateValid encoding="w3cdtf">2010-03-31</dateValid><copyrightDate encoding="w3cdtf">2010</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">2</extent><extent unit="references">17</extent><extent unit="words">3040</extent></physicalDescription><abstract lang="en">Primary dystonias are a clinically and genetically heterogeneous group of movement disorders, but only for two of them, i.e., dystonia 1 and dystonia 6, the disease causing gene has been identified. Dystonia 1 is characterized by an early onset and is caused by a mutation in the TOR1A gene. Only recently, mutations in THAP1 have been shown to be the cause of DYT6 dystonia. We analyzed 610 patients with various forms of dystonia for sequence variants in the THAP1 gene by means of high resolution melting to delineate the prevalence of sequence variants and phenotypic variability. We identified seven sequence variants in patients and one sequence variant in a control. The sequence variants were not detected in 537 healthy controls. Four patients present with generalized dystonia with speech involvement of early onset, another three patients suffered exclusively from cervical dystonia of adult onset. These findings suggest that THAP1 sequence variations seem to be associated with different ages of onset and distribution of symptoms. Consequently, the phenotypic spectrum might be broader than previously assumed. © 2010 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: Nothing to report.</note><subject lang="en"><genre>keywords</genre><topic>dystonia</topic><topic>THAP1</topic><topic>high‐resolution melting</topic><topic>DYT6</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="journal">journal</genre><note type="content"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Supporting Information Figure 1. - Supporting Information Figure 2. - Supporting Information Table 1. - Supporting Information Materials. - </note><subject><genre>article-category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2010</date><detail type="volume"><caption>vol.</caption><number>25</number></detail><detail type="issue"><caption>no.</caption><number>12</number></detail><extent unit="pages"><start>1982</start><end>1986</end><total>5</total></extent></part></relatedItem><identifier type="istex">7ABA43AD125D7A6684A7B6D4FA62B83D2B99003C</identifier><identifier type="DOI">10.1002/mds.23207</identifier><identifier type="ArticleID">MDS23207</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 Movement Disorder Society</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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