MovDisordV3, PubMed, Corpus, bibRecord, 000B86

DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.

Identifieur interne : 000B86 ( PubMed/Corpus ); précédent : 000B85; suivant : 000B87

DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.

Auteurs : Pia Winter ; Christoph Kamm ; Saskia Biskup ; Angelika Köhler ; Barbara Leube ; Georg Auburger ; Thomas Gasser ; Rainer Benecke ; Ulrich Müller

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.

RBID : pubmed:23115116

English descriptors

KwdEn :
- Chromosome Deletion, Chromosomes, Human, Pair 18 (genetics), Dystonia Musculorum Deformans (genetics), Female, Genetic Linkage (genetics), Genetic Predisposition to Disease, Genetic Testing (methods), Humans, Mutation (genetics), Pedigree, Polymorphism, Single Nucleotide (genetics), Torticollis (genetics).
MESH :
- genetics : Chromosomes, Human, Pair 18, Dystonia Musculorum Deformans, Genetic Linkage, Mutation, Polymorphism, Single Nucleotide, Torticollis.
- methods : Genetic Testing.
- Chromosome Deletion, Female, Genetic Predisposition to Disease, Humans, Pedigree.

Abstract

A locus implicated in autosomal dominant cervical dystonia was assigned to chromosome 18p in 1 large family more than 15 years ago. This locus was designated DYT7. We reanalyzed the family clinically and genetically.

DOI: 10.1002/mds.25219
PubMed: 23115116

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pubmed:23115116

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.</title>
<author><name sortKey="Winter, Pia" sort="Winter, Pia" uniqKey="Winter P" first="Pia" last="Winter">Pia Winter</name>
<affiliation><nlm:affiliation>Institute of Human Genetics, Justus Liebig University, Giessen, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name>
</author>
<author><name sortKey="Biskup, Saskia" sort="Biskup, Saskia" uniqKey="Biskup S" first="Saskia" last="Biskup">Saskia Biskup</name>
</author>
<author><name sortKey="Kohler, Angelika" sort="Kohler, Angelika" uniqKey="Kohler A" first="Angelika" last="Köhler">Angelika Köhler</name>
</author>
<author><name sortKey="Leube, Barbara" sort="Leube, Barbara" uniqKey="Leube B" first="Barbara" last="Leube">Barbara Leube</name>
</author>
<author><name sortKey="Auburger, Georg" sort="Auburger, Georg" uniqKey="Auburger G" first="Georg" last="Auburger">Georg Auburger</name>
</author>
<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
</author>
<author><name sortKey="Benecke, Rainer" sort="Benecke, Rainer" uniqKey="Benecke R" first="Rainer" last="Benecke">Rainer Benecke</name>
</author>
<author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2012">2012</date>
<idno type="doi">10.1002/mds.25219</idno>
<idno type="RBID">pubmed:23115116</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.</title>
<author><name sortKey="Winter, Pia" sort="Winter, Pia" uniqKey="Winter P" first="Pia" last="Winter">Pia Winter</name>
<affiliation><nlm:affiliation>Institute of Human Genetics, Justus Liebig University, Giessen, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name>
</author>
<author><name sortKey="Biskup, Saskia" sort="Biskup, Saskia" uniqKey="Biskup S" first="Saskia" last="Biskup">Saskia Biskup</name>
</author>
<author><name sortKey="Kohler, Angelika" sort="Kohler, Angelika" uniqKey="Kohler A" first="Angelika" last="Köhler">Angelika Köhler</name>
</author>
<author><name sortKey="Leube, Barbara" sort="Leube, Barbara" uniqKey="Leube B" first="Barbara" last="Leube">Barbara Leube</name>
</author>
<author><name sortKey="Auburger, Georg" sort="Auburger, Georg" uniqKey="Auburger G" first="Georg" last="Auburger">Georg Auburger</name>
</author>
<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
</author>
<author><name sortKey="Benecke, Rainer" sort="Benecke, Rainer" uniqKey="Benecke R" first="Rainer" last="Benecke">Rainer Benecke</name>
</author>
<author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</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="2012" type="published">2012</date>
</imprint>
</series>
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</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome Deletion</term>
<term>Chromosomes, Human, Pair 18 (genetics)</term>
<term>Dystonia Musculorum Deformans (genetics)</term>
<term>Female</term>
<term>Genetic Linkage (genetics)</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Testing (methods)</term>
<term>Humans</term>
<term>Mutation (genetics)</term>
<term>Pedigree</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>Torticollis (genetics)</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 18</term>
<term>Dystonia Musculorum Deformans</term>
<term>Genetic Linkage</term>
<term>Mutation</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Torticollis</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Testing</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Chromosome Deletion</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Pedigree</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">A locus implicated in autosomal dominant cervical dystonia was assigned to chromosome 18p in 1 large family more than 15 years ago. This locus was designated DYT7. We reanalyzed the family clinically and genetically.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23115116</PMID>
<DateCreated><Year>2013</Year>
<Month>01</Month>
<Day>03</Day>
</DateCreated>
<DateCompleted><Year>2013</Year>
<Month>08</Month>
<Day>07</Day>
</DateCompleted>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>27</Volume>
<Issue>14</Issue>
<PubDate><Year>2012</Year>
<Month>Dec</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.</ArticleTitle>
<Pagination><MedlinePgn>1819-21</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25219</ELocationID>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">A locus implicated in autosomal dominant cervical dystonia was assigned to chromosome 18p in 1 large family more than 15 years ago. This locus was designated DYT7. We reanalyzed the family clinically and genetically.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">Clinical reevaluation of all family members was performed. There was Sanger sequencing of candidate genes, SNP array analysis, and exome sequencing in definitely affected family members.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">Diagnosis of cervical dystonia was definite in 6 family members and possible in 12. Analysis of candidate genes in 18p revealed no alteration in definitely affected patients. There was no disease causing copy number variant in 18p. No potentially disease-causing mutations were detected in 18p by exome sequencing. The CIZ1 gene, mutated in some cases of cervical dystonia, was excluded.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Location of DYT7 on 18p in autosomal dominant cervical dystonia is questionable. We demonstrate genetic heterogeneity of this form of dystonia.</AbstractText>
<CopyrightInformation>Copyright © 2012 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Winter</LastName>
<ForeName>Pia</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Institute of Human Genetics, Justus Liebig University, Giessen, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kamm</LastName>
<ForeName>Christoph</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Biskup</LastName>
<ForeName>Saskia</ForeName>
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<Author ValidYN="Y"><LastName>Köhler</LastName>
<ForeName>Angelika</ForeName>
<Initials>A</Initials>
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<Author ValidYN="Y"><LastName>Leube</LastName>
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</Author>
<Author ValidYN="Y"><LastName>Auburger</LastName>
<ForeName>Georg</ForeName>
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<Author ValidYN="Y"><LastName>Gasser</LastName>
<ForeName>Thomas</ForeName>
<Initials>T</Initials>
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<Author ValidYN="Y"><LastName>Benecke</LastName>
<ForeName>Rainer</ForeName>
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</Author>
<Author ValidYN="Y"><LastName>Müller</LastName>
<ForeName>Ulrich</ForeName>
<Initials>U</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2012</Year>
<Month>10</Month>
<Day>31</Day>
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</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<SupplMeshList><SupplMeshName Type="Disease" UI="C536968">Torsion dystonia 7</SupplMeshName>
</SupplMeshList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D002872">Chromosome Deletion</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002887">Chromosomes, Human, Pair 18</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004422">Dystonia Musculorum Deformans</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008040">Genetic Linkage</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D014103">Torticollis</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2012</Year>
<Month>3</Month>
<Day>26</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2012</Year>
<Month>8</Month>
<Day>23</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2012</Year>
<Month>8</Month>
<Day>30</Day>
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<PubMedPubDate PubStatus="aheadofprint"><Year>2012</Year>
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<PubMedPubDate PubStatus="medline"><Year>2013</Year>
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<PublicationStatus>ppublish</PublicationStatus>
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	Movement Disorders (revue)
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Movement Disorders (revue)

DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.

DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

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Pour générer des pages wiki