DYT7 Gene Locus for Cervical Dystonia on Chromosome 18p Is Questionable
Identifieur interne : 001158 ( Main/Exploration ); précédent : 001157; suivant : 001159DYT7 Gene Locus for Cervical Dystonia on Chromosome 18p Is Questionable
Auteurs : Pia Winter [Allemagne] ; Christoph Kamm [Allemagne] ; Saskia Biskup [Allemagne] ; Angelika Köhler [Allemagne] ; Barbara Leube [Allemagne] ; Georg Auburger [Allemagne] ; Thomas Gasser [Allemagne] ; Rainer Benecke [Allemagne] ; Ulrich Müller [Allemagne]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
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. 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. 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. Conclusions: Location of DYT7 on 18p in autosomal dominant cervical dystonia is questionable. We demonstrate genetic heterogeneity of this form of dystonia.
Affiliations:
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type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Benecke, Rainer" sort="Benecke, Rainer" uniqKey="Benecke R" first="Rainer" last="Benecke">Rainer Benecke</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Rostock</s1><s2>Rostock</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Rostock</wicri:noRegion><wicri:noRegion>University of Rostock</wicri:noRegion><wicri:noRegion>Rostock</wicri:noRegion></affiliation></author><author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Human Genetics, Justus Liebig University</s1><s2>Giessen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Giessen</wicri:noRegion><wicri:noRegion>Justus Liebig University</wicri:noRegion><wicri:noRegion>Giessen</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Bio.logis, Zentrum für Humangenetik</s1><s2>Frankfurt</s2><s3>DEU</s3><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Frankfurt</wicri:noRegion><wicri:noRegion>Zentrum für Humangenetik</wicri:noRegion><wicri:noRegion>Frankfurt</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">13-0063602</idno><date when="2012">2012</date><idno type="stanalyst">PASCAL 13-0063602 INIST</idno><idno type="RBID">Pascal:13-0063602</idno><idno type="wicri:Area/PascalFrancis/Corpus">000000</idno><idno type="wicri:Area/PascalFrancis/Curation">002D14</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000231</idno><idno type="wicri:doubleKey">0885-3185:2012:Winter P:dyt:gene:locus</idno><idno type="wicri:Area/Main/Merge">001210</idno><idno type="wicri:Area/Main/Curation">001158</idno><idno type="wicri:Area/Main/Exploration">001158</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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 wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Human Genetics, Justus Liebig University</s1><s2>Giessen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Giessen</wicri:noRegion><wicri:noRegion>Justus Liebig University</wicri:noRegion><wicri:noRegion>Giessen</wicri:noRegion></affiliation></author><author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Rostock</s1><s2>Rostock</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Rostock</wicri:noRegion><wicri:noRegion>University of Rostock</wicri:noRegion><wicri:noRegion>Rostock</wicri:noRegion></affiliation></author><author><name sortKey="Biskup, Saskia" sort="Biskup, Saskia" uniqKey="Biskup S" first="Saskia" last="Biskup">Saskia Biskup</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Hertie Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases, University of Tübingen and CeGaT GmbH</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>3 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Kohler, Angelika" sort="Kohler, Angelika" uniqKey="Kohler A" first="Angelika" last="Köhler">Angelika Köhler</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Human Genetics, Justus Liebig University</s1><s2>Giessen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Giessen</wicri:noRegion><wicri:noRegion>Justus Liebig University</wicri:noRegion><wicri:noRegion>Giessen</wicri:noRegion></affiliation></author><author><name sortKey="Leube, Barbara" sort="Leube, Barbara" uniqKey="Leube B" first="Barbara" last="Leube">Barbara Leube</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Institute of Human Genetics, Heinrich Heine University Düsseldorf</s1><s2>Düsseldorf</s2><s3>DEU</s3><sZ>5 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Düsseldorf</wicri:noRegion><wicri:noRegion>Heinrich Heine University Düsseldorf</wicri:noRegion><wicri:noRegion>Düsseldorf</wicri:noRegion></affiliation></author><author><name sortKey="Auburger, Georg" sort="Auburger, Georg" uniqKey="Auburger G" first="Georg" last="Auburger">Georg Auburger</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, Goethe University Frankfurt am Main</s1><s2>Frankfurt am Main</s2><s3>DEU</s3><sZ>6 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Frankfurt am Main</wicri:noRegion><wicri:noRegion>Goethe University Frankfurt am Main</wicri:noRegion><wicri:noRegion>Frankfurt am Main</wicri:noRegion></affiliation></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Hertie Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases, University of Tübingen and CeGaT GmbH</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>3 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Benecke, Rainer" sort="Benecke, Rainer" uniqKey="Benecke R" first="Rainer" last="Benecke">Rainer Benecke</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Rostock</s1><s2>Rostock</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Rostock</wicri:noRegion><wicri:noRegion>University of Rostock</wicri:noRegion><wicri:noRegion>Rostock</wicri:noRegion></affiliation></author><author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Human Genetics, Justus Liebig University</s1><s2>Giessen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Giessen</wicri:noRegion><wicri:noRegion>Justus Liebig University</wicri:noRegion><wicri:noRegion>Giessen</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Bio.logis, Zentrum für Humangenetik</s1><s2>Frankfurt</s2><s3>DEU</s3><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Frankfurt</wicri:noRegion><wicri:noRegion>Zentrum für Humangenetik</wicri:noRegion><wicri:noRegion>Frankfurt</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome 18</term><term>Dystonia</term><term>Locus</term><term>Nervous system diseases</term><term>Nucleotide sequence</term><term>Sequencing</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Pathologie du système nerveux</term><term>Locus</term><term>Chromosome 18</term><term>Séquence nucléotide</term><term>Séquençage</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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. 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. 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. Conclusions: Location of DYT7 on 18p in autosomal dominant cervical dystonia is questionable. We demonstrate genetic heterogeneity of this form of dystonia.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Bade-Wurtemberg</li><li>District de Tübingen</li></region><settlement><li>Tübingen</li></settlement></list><tree><country name="Allemagne"><noRegion><name sortKey="Winter, Pia" sort="Winter, Pia" uniqKey="Winter P" first="Pia" last="Winter">Pia Winter</name></noRegion><name sortKey="Auburger, Georg" sort="Auburger, Georg" uniqKey="Auburger G" first="Georg" last="Auburger">Georg Auburger</name><name sortKey="Benecke, Rainer" sort="Benecke, Rainer" uniqKey="Benecke R" first="Rainer" last="Benecke">Rainer Benecke</name><name sortKey="Biskup, Saskia" sort="Biskup, Saskia" uniqKey="Biskup S" first="Saskia" last="Biskup">Saskia Biskup</name><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name><name sortKey="Kohler, Angelika" sort="Kohler, Angelika" uniqKey="Kohler A" first="Angelika" last="Köhler">Angelika Köhler</name><name sortKey="Leube, Barbara" sort="Leube, Barbara" uniqKey="Leube B" first="Barbara" last="Leube">Barbara Leube</name><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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