MovDisordV3, PubMed, Curation, bibRecord, 000697

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

Identifieur interne : 000697 ( PubMed/Curation ); précédent : 000696; suivant : 000698

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

Auteurs : Michael Zech [Allemagne] ; Nadine Gross ; Angela Jochim ; Florian Castrop ; Maria Kaffe ; Christian Dresel ; Peter Lichtner ; Annette Peters ; Christian Gieger ; Thomas Meitinger ; Bernhard Haslinger ; Juliane Winkelmann

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.

RBID : pubmed:24151159

English descriptors

KwdEn :
- Adult, Aged, Aged, 80 and over, Chloride Channels (genetics), Dystonia Musculorum Deformans (genetics), Female, GTP-Binding Protein alpha Subunits (genetics), Humans, Male, Middle Aged, Mutation, Missense, Young Adult.
MESH :
- chemical , genetics : Chloride Channels, GTP-Binding Protein alpha Subunits.
- genetics : Dystonia Musculorum Deformans.
- Adult, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Mutation, Missense, Young Adult.

Abstract

Rare autosomal-dominant mutations in ANO3 and GNAL have been recently shown to represent novel genetic factors underlying primary torsion dystonia (PTD) with predominantly craniocervical involvement.

DOI: 10.1002/mds.25715
PubMed: 24151159

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pubmed:24151159

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.</title>
<author><name sortKey="Zech, Michael" sort="Zech, Michael" uniqKey="Zech M" first="Michael" last="Zech">Michael Zech</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Munich</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gross, Nadine" sort="Gross, Nadine" uniqKey="Gross N" first="Nadine" last="Gross">Nadine Gross</name>
</author>
<author><name sortKey="Jochim, Angela" sort="Jochim, Angela" uniqKey="Jochim A" first="Angela" last="Jochim">Angela Jochim</name>
</author>
<author><name sortKey="Castrop, Florian" sort="Castrop, Florian" uniqKey="Castrop F" first="Florian" last="Castrop">Florian Castrop</name>
</author>
<author><name sortKey="Kaffe, Maria" sort="Kaffe, Maria" uniqKey="Kaffe M" first="Maria" last="Kaffe">Maria Kaffe</name>
</author>
<author><name sortKey="Dresel, Christian" sort="Dresel, Christian" uniqKey="Dresel C" first="Christian" last="Dresel">Christian Dresel</name>
</author>
<author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name>
</author>
<author><name sortKey="Peters, Annette" sort="Peters, Annette" uniqKey="Peters A" first="Annette" last="Peters">Annette Peters</name>
</author>
<author><name sortKey="Gieger, Christian" sort="Gieger, Christian" uniqKey="Gieger C" first="Christian" last="Gieger">Christian Gieger</name>
</author>
<author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
</author>
<author><name sortKey="Haslinger, Bernhard" sort="Haslinger, Bernhard" uniqKey="Haslinger B" first="Bernhard" last="Haslinger">Bernhard Haslinger</name>
</author>
<author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name>
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<idno type="doi">10.1002/mds.25715</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.</title>
<author><name sortKey="Zech, Michael" sort="Zech, Michael" uniqKey="Zech M" first="Michael" last="Zech">Michael Zech</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Munich</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gross, Nadine" sort="Gross, Nadine" uniqKey="Gross N" first="Nadine" last="Gross">Nadine Gross</name>
</author>
<author><name sortKey="Jochim, Angela" sort="Jochim, Angela" uniqKey="Jochim A" first="Angela" last="Jochim">Angela Jochim</name>
</author>
<author><name sortKey="Castrop, Florian" sort="Castrop, Florian" uniqKey="Castrop F" first="Florian" last="Castrop">Florian Castrop</name>
</author>
<author><name sortKey="Kaffe, Maria" sort="Kaffe, Maria" uniqKey="Kaffe M" first="Maria" last="Kaffe">Maria Kaffe</name>
</author>
<author><name sortKey="Dresel, Christian" sort="Dresel, Christian" uniqKey="Dresel C" first="Christian" last="Dresel">Christian Dresel</name>
</author>
<author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name>
</author>
<author><name sortKey="Peters, Annette" sort="Peters, Annette" uniqKey="Peters A" first="Annette" last="Peters">Annette Peters</name>
</author>
<author><name sortKey="Gieger, Christian" sort="Gieger, Christian" uniqKey="Gieger C" first="Christian" last="Gieger">Christian Gieger</name>
</author>
<author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
</author>
<author><name sortKey="Haslinger, Bernhard" sort="Haslinger, Bernhard" uniqKey="Haslinger B" first="Bernhard" last="Haslinger">Bernhard Haslinger</name>
</author>
<author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</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>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Chloride Channels (genetics)</term>
<term>Dystonia Musculorum Deformans (genetics)</term>
<term>Female</term>
<term>GTP-Binding Protein alpha Subunits (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Chloride Channels</term>
<term>GTP-Binding Protein alpha Subunits</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Young Adult</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Rare autosomal-dominant mutations in ANO3 and GNAL have been recently shown to represent novel genetic factors underlying primary torsion dystonia (PTD) with predominantly craniocervical involvement.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">24151159</PMID>
<DateCreated><Year>2014</Year>
<Month>01</Month>
<Day>24</Day>
</DateCreated>
<DateCompleted><Year>2014</Year>
<Month>09</Month>
<Day>19</Day>
</DateCompleted>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>29</Volume>
<Issue>1</Issue>
<PubDate><Year>2014</Year>
<Month>Jan</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.</ArticleTitle>
<Pagination><MedlinePgn>143-7</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25715</ELocationID>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Rare autosomal-dominant mutations in ANO3 and GNAL have been recently shown to represent novel genetic factors underlying primary torsion dystonia (PTD) with predominantly craniocervical involvement.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">We used high-resolution melting to screen all exons of ANO3 and GNAL for rare sequence variants in a population of 342 German individuals with mainly sporadic PTD and 376 general population controls.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">We identified 2 novel missense variants in ANO3 (p.Ile833Val and p.Gly973Arg) and 1 novel missense variant in GNAL (p.Val146Met) in three different nonfamilial cases. Variant carriers presented with adult-onset dystonia involving the neck and/or face. In controls, 3 rare ANO3 missense variants (p.Tyr235Cys, p.Asn256Ser, and p.Pro893Leu) but no rare nonsynonymous GNAL variants were present.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">GNAL variants seem to be a rare cause of PTD in our mainly sporadic German sample. Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis.</AbstractText>
<CopyrightInformation>Copyright © 2013 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Zech</LastName>
<ForeName>Michael</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gross</LastName>
<ForeName>Nadine</ForeName>
<Initials>N</Initials>
</Author>
<Author ValidYN="Y"><LastName>Jochim</LastName>
<ForeName>Angela</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><LastName>Castrop</LastName>
<ForeName>Florian</ForeName>
<Initials>F</Initials>
</Author>
<Author ValidYN="Y"><LastName>Kaffe</LastName>
<ForeName>Maria</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Dresel</LastName>
<ForeName>Christian</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Lichtner</LastName>
<ForeName>Peter</ForeName>
<Initials>P</Initials>
</Author>
<Author ValidYN="Y"><LastName>Peters</LastName>
<ForeName>Annette</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><LastName>Gieger</LastName>
<ForeName>Christian</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Meitinger</LastName>
<ForeName>Thomas</ForeName>
<Initials>T</Initials>
</Author>
<Author ValidYN="Y"><LastName>Haslinger</LastName>
<ForeName>Bernhard</ForeName>
<Initials>B</Initials>
</Author>
<Author ValidYN="Y"><LastName>Winkelmann</LastName>
<ForeName>Juliane</ForeName>
<Initials>J</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>2013</Year>
<Month>10</Month>
<Day>22</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="D018118">Chloride Channels</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D044385">GTP-Binding Protein alpha Subunits</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C577591">anoctamin 3, 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="D000328">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000369">Aged, 80 and over</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D018118">Chloride Channels</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="D044385">GTP-Binding Protein alpha Subunits</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020125">Mutation, Missense</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName>
</MeshHeading>
</MeshHeadingList>
<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">ANO3</Keyword>
<Keyword MajorTopicYN="N">GNAL</Keyword>
<Keyword MajorTopicYN="N">dystonia</Keyword>
<Keyword MajorTopicYN="N">gene</Keyword>
<Keyword MajorTopicYN="N">rare variants</Keyword>
</KeywordList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year>
<Month>6</Month>
<Day>5</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2013</Year>
<Month>8</Month>
<Day>26</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2013</Year>
<Month>9</Month>
<Day>11</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="aheadofprint"><Year>2013</Year>
<Month>10</Month>
<Day>22</Day>
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<Hour>6</Hour>
<Minute>0</Minute>
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<PubMedPubDate PubStatus="medline"><Year>2014</Year>
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<PublicationStatus>ppublish</PublicationStatus>
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<ArticleId IdType="doi">10.1002/mds.25715</ArticleId>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki