Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion
Identifieur interne : 001518 ( Istex/Corpus ); précédent : 001517; suivant : 001519Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion
Auteurs : Patricia De Carvalho Aguiar ; Tania Fuchs ; Vanderci Borges ; Kay-Marie Lamar ; Sonia Maria Azevedo Silva ; Henrique Ballalai Ferraz ; Laurie OzeliusSource :
- Movement Disorders [ 0885-3185 ] ; 2010-12-15.
English descriptors
Abstract
The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAP1 in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23133
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ISTEX:91788C6263C7B72474D524BBA792F4E681B1E0B1Le document en format XML
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We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAP1 in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD. © 2010 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Patricia De Carvalho Aguiar MD, PhD</name><affiliations><json:string>Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil</json:string><json:string>Instituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, SP, Brazil</json:string></affiliations></json:item><json:item><name>Tania Fuchs PhD</name><affiliations><json:string>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Vanderci Borges MD, PhD</name><affiliations><json:string>Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil</json:string></affiliations></json:item><json:item><name>Kay‐Marie Lamar BS</name><affiliations><json:string>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Sonia Maria Azevedo Silva MD, PhD</name><affiliations><json:string>Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil</json:string></affiliations></json:item><json:item><name>Henrique Ballalai Ferraz MD, PhD</name><affiliations><json:string>Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil</json:string></affiliations></json:item><json:item><name>Laurie Ozelius PhD</name><affiliations><json:string>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</json:string><json:string>Department of Neurology, Mount Sinai School of Medicine, New York, New York, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>dystonia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>DYT1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>TOR1A</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>DYT6</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>THAP1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>de novo mutation</value></json:item></subject><language><json:string>eng</json:string></language><abstract>The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAP1 in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD. © 2010 Movement Disorder Society</abstract><qualityIndicators><score>6.212</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>594</abstractCharCount><pdfWordCount>19371</pdfWordCount><pdfCharCount>127329</pdfCharCount><pdfPageCount>34</pdfPageCount><abstractWordCount>101</abstractWordCount></qualityIndicators><title>Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion</title><genre><json:string>Serial article</json:string></genre><host><volume>25</volume><pages><total>4</total><last>2857</last><first>2854</first></pages><issn><json:string>0885-3185</json:string></issn><issue>16</issue><subject><json:item><value>Brief Report</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2010</publicationDate><copyrightDate>2010</copyrightDate><doi><json:string>10.1002/mds.23133</json:string></doi><id>91788C6263C7B72474D524BBA792F4E681B1E0B1</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/91788C6263C7B72474D524BBA792F4E681B1E0B1/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/91788C6263C7B72474D524BBA792F4E681B1E0B1/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/91788C6263C7B72474D524BBA792F4E681B1E0B1/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2010</date></publicationStmt><notesStmt><note type="content">*Potential conflict of interest: Nothing to report.</note><note>Dystonia Medical Research Foundation (LJO)</note><note>Bachmann‐Strauss Dystonia and Parkinson Foundation (LJO)</note><note>National Institute of Neurological Disorders and Stroke - No. NS26636, LJO;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion</title><author><persName><forename type="first">Patricia</forename><surname>De Carvalho Aguiar</surname><roleName type="degree">MD, PhD</roleName></persName><note type="correspondence"><p>Correspondence: Department of Neurology and Neurosurgery‐UNIFESP, Rua Botucatu,740, Sao Paulo, SP 04023‐900, Brasil</p></note><affiliation>Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil</affiliation><affiliation>Instituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, SP, Brazil</affiliation></author><author><persName><forename type="first">Tania</forename><surname>Fuchs</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</affiliation></author><author><persName><forename type="first">Vanderci</forename><surname>Borges</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil</affiliation></author><author><persName><forename type="first">Kay‐Marie</forename><surname>Lamar</surname><roleName type="degree">BS</roleName></persName><affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</affiliation></author><author><persName><forename type="first">Sonia Maria Azevedo</forename><surname>Silva</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil</affiliation></author><author><persName><forename type="first">Henrique Ballalai</forename><surname>Ferraz</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil</affiliation></author><author><persName><forename type="first">Laurie</forename><surname>Ozelius</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</affiliation><affiliation>Department of Neurology, Mount Sinai School of Medicine, New York, New York, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">dystonia</keyword><keyword xml:id="kwd2">DYT1</keyword><keyword xml:id="kwd3">TOR1A</keyword><keyword xml:id="kwd4">DYT6</keyword><keyword xml:id="kwd5">THAP1</keyword><keyword xml:id="kwd6">de novo mutation</keyword></keywordGroup><fundingInfo><fundingAgency>Dystonia Medical Research Foundation (LJO)</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Bachmann‐Strauss Dystonia and Parkinson Foundation (LJO)</fundingAgency></fundingInfo><fundingInfo><fundingAgency>National Institute of Neurological Disorders and Stroke</fundingAgency><fundingNumber>NS26636, LJO</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The <i>TOR1A</i> and <i>THAP1</i> genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the <i>TOR1A</i> gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in <i>THAP1</i> in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, <i>TOR1A</i> and <i>THAP1</i>, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD. © 2010 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: Nothing to report.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Screening of Brazilian Families with Primary Dystonia</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Screening of Brazilian families with primary dystonia reveals a novel</title></titleInfo><name type="personal"><namePart type="given">Patricia</namePart><namePart type="family">De Carvalho Aguiar</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil</affiliation><affiliation>Instituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, SP, Brazil</affiliation><description>Correspondence: Department of Neurology and Neurosurgery‐UNIFESP, Rua Botucatu,740, Sao Paulo, SP 04023‐900, Brasil</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tania</namePart><namePart type="family">Fuchs</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vanderci</namePart><namePart type="family">Borges</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kay‐Marie</namePart><namePart type="family">Lamar</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sonia Maria Azevedo</namePart><namePart type="family">Silva</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Henrique Ballalai</namePart><namePart type="family">Ferraz</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Laurie</namePart><namePart type="family">Ozelius</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</affiliation><affiliation>Department of Neurology, Mount Sinai School of Medicine, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2010-12-15</dateIssued><dateCaptured encoding="w3cdtf">2009-07-30</dateCaptured><dateValid encoding="w3cdtf">2010-03-09</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">1</extent><extent unit="references">13</extent><extent unit="words">3173</extent></physicalDescription><abstract lang="en">The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAP1 in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD. © 2010 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: Nothing to report.</note><note type="funding">Dystonia Medical Research Foundation (LJO)</note><note type="funding">Bachmann‐Strauss Dystonia and Parkinson Foundation (LJO)</note><note type="funding">National Institute of Neurological Disorders and Stroke - No. NS26636, LJO; </note><subject lang="en"><genre>Keywords</genre><topic>dystonia</topic><topic>DYT1</topic><topic>TOR1A</topic><topic>DYT6</topic><topic>THAP1</topic><topic>de novo mutation</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><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>16</number></detail><extent unit="pages"><start>2854</start><end>2857</end><total>4</total></extent></part></relatedItem><identifier type="istex">91788C6263C7B72474D524BBA792F4E681B1E0B1</identifier><identifier type="DOI">10.1002/mds.23133</identifier><identifier type="ArticleID">MDS23133</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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