A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
Identifieur interne : 000310 ( PubMed/Curation ); précédent : 000309; suivant : 000311A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
Auteurs : Raphael Carapito [France] ; Nicodème Paul ; Meiggie Untrau ; Marion Le Gentil ; Louise Ott ; Ghada Alsaleh ; Pierre Jochem ; Mirjana Radosavljevic ; Cédric Le Caignec ; Albert David ; Philippe Damier ; Bertrand Isidor ; Seiamak BahramSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
Abstract
Apart from Huntington's disease, little is known of the genetics of autosomal dominant chorea associated with dystonia. Here we identify adenylate cyclase 5 (ADCY5) as a likely new causal gene for early-onset chorea and dystonia.
DOI: 10.1002/mds.26115
PubMed: 25545163
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sortKey="Paul, Nicodeme" sort="Paul, Nicodeme" uniqKey="Paul N" first="Nicodème" last="Paul">Nicodème Paul</name></author><author><name sortKey="Untrau, Meiggie" sort="Untrau, Meiggie" uniqKey="Untrau M" first="Meiggie" last="Untrau">Meiggie Untrau</name></author><author><name sortKey="Le Gentil, Marion" sort="Le Gentil, Marion" uniqKey="Le Gentil M" first="Marion" last="Le Gentil">Marion Le Gentil</name></author><author><name sortKey="Ott, Louise" sort="Ott, Louise" uniqKey="Ott L" first="Louise" last="Ott">Louise Ott</name></author><author><name sortKey="Alsaleh, Ghada" sort="Alsaleh, Ghada" uniqKey="Alsaleh G" first="Ghada" last="Alsaleh">Ghada Alsaleh</name></author><author><name sortKey="Jochem, Pierre" sort="Jochem, Pierre" uniqKey="Jochem P" first="Pierre" last="Jochem">Pierre Jochem</name></author><author><name sortKey="Radosavljevic, Mirjana" sort="Radosavljevic, Mirjana" uniqKey="Radosavljevic M" first="Mirjana" last="Radosavljevic">Mirjana Radosavljevic</name></author><author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cédric" last="Le Caignec">Cédric Le Caignec</name></author><author><name sortKey="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name></author><author><name sortKey="Damier, Philippe" sort="Damier, Philippe" uniqKey="Damier P" first="Philippe" last="Damier">Philippe Damier</name></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name></author><author><name sortKey="Bahram, Seiamak" sort="Bahram, Seiamak" uniqKey="Bahram S" first="Seiamak" last="Bahram">Seiamak Bahram</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25545163</idno><idno type="pmid">25545163</idno><idno type="doi">10.1002/mds.26115</idno><idno type="wicri:Area/PubMed/Corpus">000310</idno><idno type="wicri:Area/PubMed/Curation">000310</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.</title><author><name sortKey="Carapito, Raphael" sort="Carapito, Raphael" uniqKey="Carapito R" first="Raphael" last="Carapito">Raphael Carapito</name><affiliation wicri:level="1"><nlm:affiliation>Plateforme GENOMAX, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Centre de Recherche d'Immunologie et d'Hématologie, Faculté de Médecine, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Plateforme GENOMAX, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Centre de Recherche d'Immunologie et d'Hématologie, Faculté de Médecine, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Paul, Nicodeme" sort="Paul, Nicodeme" uniqKey="Paul N" first="Nicodème" last="Paul">Nicodème Paul</name></author><author><name sortKey="Untrau, Meiggie" sort="Untrau, Meiggie" uniqKey="Untrau M" first="Meiggie" last="Untrau">Meiggie Untrau</name></author><author><name sortKey="Le Gentil, Marion" sort="Le Gentil, Marion" uniqKey="Le Gentil M" first="Marion" last="Le Gentil">Marion Le Gentil</name></author><author><name sortKey="Ott, Louise" sort="Ott, Louise" uniqKey="Ott L" first="Louise" last="Ott">Louise Ott</name></author><author><name sortKey="Alsaleh, Ghada" sort="Alsaleh, Ghada" uniqKey="Alsaleh G" first="Ghada" last="Alsaleh">Ghada Alsaleh</name></author><author><name sortKey="Jochem, Pierre" sort="Jochem, Pierre" uniqKey="Jochem P" first="Pierre" last="Jochem">Pierre Jochem</name></author><author><name sortKey="Radosavljevic, Mirjana" sort="Radosavljevic, Mirjana" uniqKey="Radosavljevic M" first="Mirjana" last="Radosavljevic">Mirjana Radosavljevic</name></author><author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cédric" last="Le Caignec">Cédric Le Caignec</name></author><author><name sortKey="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name></author><author><name sortKey="Damier, Philippe" sort="Damier, Philippe" uniqKey="Damier P" first="Philippe" last="Damier">Philippe Damier</name></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name></author><author><name sortKey="Bahram, Seiamak" sort="Bahram, Seiamak" uniqKey="Bahram S" first="Seiamak" last="Bahram">Seiamak Bahram</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="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Apart from Huntington's disease, little is known of the genetics of autosomal dominant chorea associated with dystonia. Here we identify adenylate cyclase 5 (ADCY5) as a likely new causal gene for early-onset chorea and dystonia.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="In-Process"><PMID Version="1">25545163</PMID><DateCreated><Year>2015</Year><Month>03</Month><Day>11</Day></DateCreated><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>30</Volume><Issue>3</Issue><PubDate><Year>2015</Year><Month>Mar</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.</ArticleTitle><Pagination><MedlinePgn>423-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.26115</ELocationID><Abstract><AbstractText Label="IMPORTANCE" NlmCategory="OBJECTIVE">Apart from Huntington's disease, little is known of the genetics of autosomal dominant chorea associated with dystonia. Here we identify adenylate cyclase 5 (ADCY5) as a likely new causal gene for early-onset chorea and dystonia.</AbstractText><AbstractText Label="OBSERVATIONS" NlmCategory="METHODS">Whole exome sequencing in a three-generation family affected with autosomal dominant chorea associated with dystonia identified a single de novo mutation—c.2088+1G>A in a 5' donor splice-site of ADCY5—segregating with the disease. This mutation seeming leads to RNA instability and therefore ADCY5 haploinsufficiency.</AbstractText><AbstractText Label="CONCLUSIONS AND RELEVANCE" NlmCategory="CONCLUSIONS">Our finding confirms the genetic/clinical heterogeneity of the disorder; corroborated by previous identification of ADCY5 mutations in one family with dyskinesia-facial myokymia and in two unrelated sporadic cases of paxoysmal choreic/dystonia-facial myokymia; ADCY5's high expression in the striatum and movement disorders in ADCY5-deficient mice. Hence ADCY5 genetic analyses may be relevant in the diagnostic workup of unexplained early-onset hyperkinetic movement disorders.</AbstractText><CopyrightInformation>© 2014 International Parkinson and Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Carapito</LastName><ForeName>Raphael</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Plateforme GENOMAX, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Centre de Recherche d'Immunologie et d'Hématologie, Faculté de Médecine, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Paul</LastName><ForeName>Nicodème</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Untrau</LastName><ForeName>Meiggie</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Le Gentil</LastName><ForeName>Marion</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Ott</LastName><ForeName>Louise</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Alsaleh</LastName><ForeName>Ghada</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Jochem</LastName><ForeName>Pierre</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Radosavljevic</LastName><ForeName>Mirjana</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Le Caignec</LastName><ForeName>Cédric</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>David</LastName><ForeName>Albert</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Damier</LastName><ForeName>Philippe</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Isidor</LastName><ForeName>Bertrand</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Bahram</LastName><ForeName>Seiamak</ForeName><Initials>S</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>12</Month><Day>27</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">ADCY5</Keyword><Keyword MajorTopicYN="N">chorea associated with dystonia</Keyword><Keyword MajorTopicYN="N">exome</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2014</Year><Month>1</Month><Day>11</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2014</Year><Month>10</Month><Day>28</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2014</Year><Month>11</Month><Day>2</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2014</Year><Month>12</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>12</Month><Day>30</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>12</Month><Day>30</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>12</Month><Day>30</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25545163</ArticleId><ArticleId IdType="doi">10.1002/mds.26115</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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