X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.
Identifieur interne : 003990 ( Ncbi/Merge ); précédent : 003989; suivant : 003991X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.
Auteurs : Ana Westenberger [Allemagne] ; Raymond L. Rosales ; Sascha Heinitz ; Karen Freimann ; Lilian V. Lee ; Roland D. Jamora ; Arlene R. Ng ; Aloysius Domingo ; Katja Lohmann ; Uwe Walter ; Uta Gölnitz ; Arndt Rolfs ; Inga Nagel ; Gabriele Gillessen-Kaesbach ; Reiner Siebert ; Dirk Dressler ; Christine KleinSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- Chromosomes, Human, X, Dystonic Disorders, Female, Genetic Diseases, X-Linked, Genetic Testing, Histone Acetyltransferases (genetics), Humans, Middle Aged, TATA-Binding Protein Associated Factors (genetics), Transcription Factor TFIID (genetics), Turner Syndrome (complications), Turner Syndrome (genetics).
- MESH :
- chemical , genetics : Histone Acetyltransferases, TATA-Binding Protein Associated Factors, Transcription Factor TFIID.
- complications : Turner Syndrome.
- genetics : Turner Syndrome.
- Chromosomes, Human, X, Dystonic Disorders, Female, Genetic Diseases, X-Linked, Genetic Testing, Humans, Middle Aged.
Abstract
Recessive X-linked dystonia-parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient.
DOI: 10.1002/mds.25369
PubMed: 23389859
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pubmed:23389859Le document en format XML
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Rosales</name></author><author><name sortKey="Heinitz, Sascha" sort="Heinitz, Sascha" uniqKey="Heinitz S" first="Sascha" last="Heinitz">Sascha Heinitz</name></author><author><name sortKey="Freimann, Karen" sort="Freimann, Karen" uniqKey="Freimann K" first="Karen" last="Freimann">Karen Freimann</name></author><author><name sortKey="Lee, Lilian V" sort="Lee, Lilian V" uniqKey="Lee L" first="Lilian V" last="Lee">Lilian V. Lee</name></author><author><name sortKey="Jamora, Roland D" sort="Jamora, Roland D" uniqKey="Jamora R" first="Roland D" last="Jamora">Roland D. Jamora</name></author><author><name sortKey="Ng, Arlene R" sort="Ng, Arlene R" uniqKey="Ng A" first="Arlene R" last="Ng">Arlene R. Ng</name></author><author><name sortKey="Domingo, Aloysius" sort="Domingo, Aloysius" uniqKey="Domingo A" first="Aloysius" last="Domingo">Aloysius Domingo</name></author><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name></author><author><name sortKey="Walter, Uwe" sort="Walter, Uwe" uniqKey="Walter U" first="Uwe" last="Walter">Uwe Walter</name></author><author><name sortKey="Golnitz, Uta" sort="Golnitz, Uta" uniqKey="Golnitz U" first="Uta" last="Gölnitz">Uta Gölnitz</name></author><author><name sortKey="Rolfs, Arndt" sort="Rolfs, Arndt" uniqKey="Rolfs A" first="Arndt" last="Rolfs">Arndt Rolfs</name></author><author><name sortKey="Nagel, Inga" sort="Nagel, Inga" uniqKey="Nagel I" first="Inga" last="Nagel">Inga Nagel</name></author><author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name></author><author><name sortKey="Siebert, Reiner" sort="Siebert, Reiner" uniqKey="Siebert R" first="Reiner" last="Siebert">Reiner Siebert</name></author><author><name sortKey="Dressler, Dirk" sort="Dressler, Dirk" uniqKey="Dressler D" first="Dirk" last="Dressler">Dirk Dressler</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="doi">10.1002/mds.25369</idno><idno type="RBID">pubmed:23389859</idno><idno type="pmid">23389859</idno><idno type="wicri:Area/PubMed/Corpus">000A91</idno><idno type="wicri:Area/PubMed/Curation">000A91</idno><idno type="wicri:Area/PubMed/Checkpoint">000718</idno><idno type="wicri:Area/Ncbi/Merge">003990</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.</title><author><name sortKey="Westenberger, Ana" sort="Westenberger, Ana" uniqKey="Westenberger A" first="Ana" last="Westenberger">Ana Westenberger</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Rosales, Raymond L" sort="Rosales, Raymond L" uniqKey="Rosales R" first="Raymond L" last="Rosales">Raymond L. Rosales</name></author><author><name sortKey="Heinitz, Sascha" sort="Heinitz, Sascha" uniqKey="Heinitz S" first="Sascha" last="Heinitz">Sascha Heinitz</name></author><author><name sortKey="Freimann, Karen" sort="Freimann, Karen" uniqKey="Freimann K" first="Karen" last="Freimann">Karen Freimann</name></author><author><name sortKey="Lee, Lilian V" sort="Lee, Lilian V" uniqKey="Lee L" first="Lilian V" last="Lee">Lilian V. Lee</name></author><author><name sortKey="Jamora, Roland D" sort="Jamora, Roland D" uniqKey="Jamora R" first="Roland D" last="Jamora">Roland D. Jamora</name></author><author><name sortKey="Ng, Arlene R" sort="Ng, Arlene R" uniqKey="Ng A" first="Arlene R" last="Ng">Arlene R. Ng</name></author><author><name sortKey="Domingo, Aloysius" sort="Domingo, Aloysius" uniqKey="Domingo A" first="Aloysius" last="Domingo">Aloysius Domingo</name></author><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name></author><author><name sortKey="Walter, Uwe" sort="Walter, Uwe" uniqKey="Walter U" first="Uwe" last="Walter">Uwe Walter</name></author><author><name sortKey="Golnitz, Uta" sort="Golnitz, Uta" uniqKey="Golnitz U" first="Uta" last="Gölnitz">Uta Gölnitz</name></author><author><name sortKey="Rolfs, Arndt" sort="Rolfs, Arndt" uniqKey="Rolfs A" first="Arndt" last="Rolfs">Arndt Rolfs</name></author><author><name sortKey="Nagel, Inga" sort="Nagel, Inga" uniqKey="Nagel I" first="Inga" last="Nagel">Inga Nagel</name></author><author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name></author><author><name sortKey="Siebert, Reiner" sort="Siebert, Reiner" uniqKey="Siebert R" first="Reiner" last="Siebert">Reiner Siebert</name></author><author><name sortKey="Dressler, Dirk" sort="Dressler, Dirk" uniqKey="Dressler D" first="Dirk" last="Dressler">Dirk Dressler</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosomes, Human, X</term><term>Dystonic Disorders</term><term>Female</term><term>Genetic Diseases, X-Linked</term><term>Genetic Testing</term><term>Histone Acetyltransferases (genetics)</term><term>Humans</term><term>Middle Aged</term><term>TATA-Binding Protein Associated Factors (genetics)</term><term>Transcription Factor TFIID (genetics)</term><term>Turner Syndrome (complications)</term><term>Turner Syndrome (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Histone Acetyltransferases</term><term>TATA-Binding Protein Associated Factors</term><term>Transcription Factor TFIID</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Turner Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosomes, Human, X</term><term>Dystonic Disorders</term><term>Female</term><term>Genetic Diseases, X-Linked</term><term>Genetic Testing</term><term>Humans</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recessive X-linked dystonia-parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23389859</PMID><DateCreated><Year>2013</Year><Month>05</Month><Day>16</Day></DateCreated><DateCompleted><Year>2014</Year><Month>01</Month><Day>02</Day></DateCompleted><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>28</Volume><Issue>5</Issue><PubDate><Year>2013</Year><Month>May</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.</ArticleTitle><Pagination><MedlinePgn>675-8</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25369</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Recessive X-linked dystonia-parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We confirmed the presence of an X-linked dystonia-parkinsonism-specific change in our patient by sequencing. In addition, we employed quantitative real-time PCR and array comparative genomic hybridization to determine the patient's X-chromosome copy number.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">The patient's sequence electropherogram suggested a higher amount of the mutated allele compared with the wild-type allele. Subsequently, extensive gene dosage analyses revealed a copy number of the X chromosomes between 1 and 2, indicating loss of 1 X chromosome in a subset of cells. Phenotypic reevaluation of the patient showed several clinical features of Turner syndrome.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Our female X-linked dystonia-parkinsonism patient suffered from an undiagnosed X-chromosome monosomy in a subset of cells (45,X/46,XX), suggesting an atypical Turner syndrome and contributing the first molecular explanation for the manifestation of an X-linked dystonia-parkinsonism phenotype in women. © 2013 Movement Disorder Society.</AbstractText><CopyrightInformation>Copyright © 2013 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Westenberger</LastName><ForeName>Ana</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rosales</LastName><ForeName>Raymond L</ForeName><Initials>RL</Initials></Author><Author ValidYN="Y"><LastName>Heinitz</LastName><ForeName>Sascha</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Freimann</LastName><ForeName>Karen</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Lee</LastName><ForeName>Lilian V</ForeName><Initials>LV</Initials></Author><Author ValidYN="Y"><LastName>Jamora</LastName><ForeName>Roland D</ForeName><Initials>RD</Initials></Author><Author ValidYN="Y"><LastName>Ng</LastName><ForeName>Arlene R</ForeName><Initials>AR</Initials></Author><Author ValidYN="Y"><LastName>Domingo</LastName><ForeName>Aloysius</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Lohmann</LastName><ForeName>Katja</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Walter</LastName><ForeName>Uwe</ForeName><Initials>U</Initials></Author><Author ValidYN="Y"><LastName>Gölnitz</LastName><ForeName>Uta</ForeName><Initials>U</Initials></Author><Author ValidYN="Y"><LastName>Rolfs</LastName><ForeName>Arndt</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Nagel</LastName><ForeName>Inga</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Gillessen-Kaesbach</LastName><ForeName>Gabriele</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Siebert</LastName><ForeName>Reiner</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Dressler</LastName><ForeName>Dirk</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Klein</LastName><ForeName>Christine</ForeName><Initials>C</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>02</Month><Day>06</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D035381">TATA-Binding Protein Associated Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D035362">Transcription Factor TFIID</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.3.1.48</RegistryNumber><NameOfSubstance UI="D051548">Histone Acetyltransferases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="C069001">TATA-binding protein associated factor 250 kDa</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C564048">Dystonia 3, Torsion, X-Linked</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D041321">Chromosomes, Human, X</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D040181">Genetic Diseases, X-Linked</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051548">Histone Acetyltransferases</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D035381">TATA-Binding Protein Associated Factors</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D035362">Transcription Factor TFIID</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014424">Turner Syndrome</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2012</Year><Month>7</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2012</Year><Month>12</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2012</Year><Month>12</Month><Day>21</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2013</Year><Month>2</Month><Day>6</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2013</Year><Month>2</Month><Day>8</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2013</Year><Month>2</Month><Day>8</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>1</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.25369</ArticleId><ArticleId IdType="pubmed">23389859</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li></country></list><tree><noCountry><name sortKey="Domingo, Aloysius" sort="Domingo, Aloysius" uniqKey="Domingo A" first="Aloysius" last="Domingo">Aloysius Domingo</name><name sortKey="Dressler, Dirk" sort="Dressler, Dirk" uniqKey="Dressler D" first="Dirk" last="Dressler">Dirk Dressler</name><name sortKey="Freimann, Karen" sort="Freimann, Karen" uniqKey="Freimann K" first="Karen" last="Freimann">Karen Freimann</name><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name><name sortKey="Golnitz, Uta" sort="Golnitz, Uta" uniqKey="Golnitz U" first="Uta" last="Gölnitz">Uta Gölnitz</name><name sortKey="Heinitz, Sascha" sort="Heinitz, Sascha" uniqKey="Heinitz S" first="Sascha" last="Heinitz">Sascha Heinitz</name><name sortKey="Jamora, Roland D" sort="Jamora, Roland D" uniqKey="Jamora R" first="Roland D" last="Jamora">Roland D. Jamora</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Lee, Lilian V" sort="Lee, Lilian V" uniqKey="Lee L" first="Lilian V" last="Lee">Lilian V. Lee</name><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><name sortKey="Nagel, Inga" sort="Nagel, Inga" uniqKey="Nagel I" first="Inga" last="Nagel">Inga Nagel</name><name sortKey="Ng, Arlene R" sort="Ng, Arlene R" uniqKey="Ng A" first="Arlene R" last="Ng">Arlene R. Ng</name><name sortKey="Rolfs, Arndt" sort="Rolfs, Arndt" uniqKey="Rolfs A" first="Arndt" last="Rolfs">Arndt Rolfs</name><name sortKey="Rosales, Raymond L" sort="Rosales, Raymond L" uniqKey="Rosales R" first="Raymond L" last="Rosales">Raymond L. Rosales</name><name sortKey="Siebert, Reiner" sort="Siebert, Reiner" uniqKey="Siebert R" first="Reiner" last="Siebert">Reiner Siebert</name><name sortKey="Walter, Uwe" sort="Walter, Uwe" uniqKey="Walter U" first="Uwe" last="Walter">Uwe Walter</name></noCountry><country name="Allemagne"><noRegion><name sortKey="Westenberger, Ana" sort="Westenberger, Ana" uniqKey="Westenberger A" first="Ana" last="Westenberger">Ana Westenberger</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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