Screening of mutations in GNAL in sporadic dystonia patients.
Identifieur interne : 000611 ( PubMed/Corpus ); précédent : 000610; suivant : 000612Screening of mutations in GNAL in sporadic dystonia patients.
Auteurs : Claudia Dufke ; Marc Sturm ; Christopher Schroeder ; Susanne Moll ; Thomas Ott ; Olaf Riess ; Peter Bauer ; Kathrin GrundmannSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Apoptosis Regulatory Proteins (genetics), Child, Child, Preschool, Cohort Studies, DNA-Binding Proteins (genetics), Dystonic Disorders (genetics), Female, GTP-Binding Protein alpha Subunits (genetics), Genetic Association Studies, Genetic Predisposition to Disease (genetics), Humans, Infant, Male, Middle Aged, Mutation (genetics), Nuclear Proteins (genetics), Young Adult.
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, GTP-Binding Protein alpha Subunits, Nuclear Proteins.
- genetics : Dystonic Disorders, Genetic Predisposition to Disease, Mutation.
- Adolescent, Adult, Aged, Child, Child, Preschool, Cohort Studies, Female, Genetic Association Studies, Humans, Infant, Male, Middle Aged, Young Adult.
Abstract
GNAL mutations have been shown to cause adult-onset isolated dystonia, a disabling movement disorder characterized by involuntary muscle contractions causing twisting and repetitive movements or abnormal postures.
DOI: 10.1002/mds.25794
PubMed: 24408567
Links to Exploration step
pubmed:24408567Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Screening of mutations in GNAL in sporadic dystonia patients.</title><author><name sortKey="Dufke, Claudia" sort="Dufke, Claudia" uniqKey="Dufke C" first="Claudia" last="Dufke">Claudia Dufke</name><affiliation><nlm:affiliation>Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Sturm, Marc" sort="Sturm, Marc" uniqKey="Sturm M" first="Marc" last="Sturm">Marc Sturm</name></author><author><name sortKey="Schroeder, Christopher" sort="Schroeder, Christopher" uniqKey="Schroeder C" first="Christopher" last="Schroeder">Christopher Schroeder</name></author><author><name sortKey="Moll, Susanne" sort="Moll, Susanne" uniqKey="Moll S" first="Susanne" last="Moll">Susanne Moll</name></author><author><name sortKey="Ott, Thomas" sort="Ott, Thomas" uniqKey="Ott T" first="Thomas" last="Ott">Thomas Ott</name></author><author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name></author><author><name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24408567</idno><idno type="pmid">24408567</idno><idno type="doi">10.1002/mds.25794</idno><idno type="wicri:Area/PubMed/Corpus">000611</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Screening of mutations in GNAL in sporadic dystonia patients.</title><author><name sortKey="Dufke, Claudia" sort="Dufke, Claudia" uniqKey="Dufke C" first="Claudia" last="Dufke">Claudia Dufke</name><affiliation><nlm:affiliation>Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Sturm, Marc" sort="Sturm, Marc" uniqKey="Sturm M" first="Marc" last="Sturm">Marc Sturm</name></author><author><name sortKey="Schroeder, Christopher" sort="Schroeder, Christopher" uniqKey="Schroeder C" first="Christopher" last="Schroeder">Christopher Schroeder</name></author><author><name sortKey="Moll, Susanne" sort="Moll, Susanne" uniqKey="Moll S" first="Susanne" last="Moll">Susanne Moll</name></author><author><name sortKey="Ott, Thomas" sort="Ott, Thomas" uniqKey="Ott T" first="Thomas" last="Ott">Thomas Ott</name></author><author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name></author><author><name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</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="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Apoptosis Regulatory Proteins (genetics)</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>DNA-Binding Proteins (genetics)</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>GTP-Binding Protein alpha Subunits (genetics)</term><term>Genetic Association Studies</term><term>Genetic Predisposition to Disease (genetics)</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Nuclear Proteins (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term><term>DNA-Binding Proteins</term><term>GTP-Binding Protein alpha Subunits</term><term>Nuclear Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Genetic Predisposition to Disease</term><term>Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>Female</term><term>Genetic Association Studies</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">GNAL mutations have been shown to cause adult-onset isolated dystonia, a disabling movement disorder characterized by involuntary muscle contractions causing twisting and repetitive movements or abnormal postures.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">24408567</PMID><DateCreated><Year>2014</Year><Month>08</Month><Day>20</Day></DateCreated><DateCompleted><Year>2015</Year><Month>04</Month><Day>20</Day></DateCompleted><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>29</Volume><Issue>9</Issue><PubDate><Year>2014</Year><Month>Aug</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Screening of mutations in GNAL in sporadic dystonia patients.</ArticleTitle><Pagination><MedlinePgn>1193-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25794</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">GNAL mutations have been shown to cause adult-onset isolated dystonia, a disabling movement disorder characterized by involuntary muscle contractions causing twisting and repetitive movements or abnormal postures.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">To test the frequency of GNAL mutations in a series of 137 German patients with sporadic dystonia patients we used next-generation sequencing of amplicon-derived barcoded NexteraXT libraries for the coding exons and adjacent intronic sequences of GNAL.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">In our cohort we identified 1 pathogenic nonsense mutation (c.733C>T, p.R245*) in a patient with cervical dystonia. In a second patient a synonymous coding nonsynonymous variant (c.G252A, p.E84E) was detected, which is predicted to alter a splice site.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Our findings further support GNAL as causative gene in adult-onset isolated dystonia.</AbstractText><CopyrightInformation>© 2014 International Parkinson and Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Dufke</LastName><ForeName>Claudia</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sturm</LastName><ForeName>Marc</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Schroeder</LastName><ForeName>Christopher</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Moll</LastName><ForeName>Susanne</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Ott</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Riess</LastName><ForeName>Olaf</ForeName><Initials>O</Initials></Author><Author ValidYN="Y"><LastName>Bauer</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Grundmann</LastName><ForeName>Kathrin</ForeName><Initials>K</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>01</Month><Day>09</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="D051017">Apoptosis Regulatory Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D004268">DNA-Binding Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D044385">GTP-Binding Protein alpha Subunits</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009687">Nuclear Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C474080">THAP1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C084618">olfactory G protein subunit alpha olf</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051017">Apoptosis Regulatory Proteins</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002675">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015331">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004268">DNA-Binding Proteins</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044385">GTP-Binding Protein alpha Subunits</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D056726">Genetic Association Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007223">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009687">Nuclear Proteins</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">GNAL</Keyword><Keyword MajorTopicYN="N">isolated dystonia</Keyword><Keyword MajorTopicYN="N">mutation</Keyword><Keyword MajorTopicYN="N">next-generation sequencing</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year><Month>8</Month><Day>8</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2013</Year><Month>11</Month><Day>13</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2013</Year><Month>12</Month><Day>3</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2014</Year><Month>1</Month><Day>9</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>1</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>1</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>4</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">24408567</ArticleId><ArticleId IdType="doi">10.1002/mds.25794</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce 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