Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.
Identifieur interne : 000246 ( PubMed/Corpus ); précédent : 000245; suivant : 000247Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.
Auteurs : J Leung ; C. Klein ; J. Friedman ; P. Vieregge ; H. Jacobs ; D. Doheny ; C. Kamm ; D. Deleon ; P Pramstaller ; J Penney ; M. Eisengart ; J. Jankovic ; T. Gasser ; S Bressman ; D Corey ; P. Kramer ; M Brin ; L Ozelius ; X BreakefieldSource :
- Neurogenetics [ 1364-6745 ] ; 2001.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Carrier Proteins (genetics), Child, Child, Preschool, DNA Primers, Dystonia Musculorum Deformans (genetics), Female, Humans, Infant, Male, Middle Aged, Molecular Chaperones, Mutation, Parkinson Disease (genetics), Pedigree, Polymerase Chain Reaction, Polymorphism, Genetic, Polymorphism, Single-Stranded Conformational, Sequence Deletion.
- MESH :
- chemical , genetics : Carrier Proteins.
- genetics : Dystonia Musculorum Deformans, Parkinson Disease.
- Adolescent, Adult, Age of Onset, Child, Child, Preschool, DNA Primers, Female, Humans, Infant, Male, Middle Aged, Molecular Chaperones, Mutation, Pedigree, Polymerase Chain Reaction, Polymorphism, Genetic, Polymorphism, Single-Stranded Conformational, Sequence Deletion.
Abstract
Dystonia is a movement disorder involving sustained muscle contractions and abnormal posturing with a strong hereditary predisposition and without a distinct neuropathology. In this study the TOR1A (DYT1) gene was screened for mutations in cases of early onset dystonia and early onset parkinsonism (EOP), which frequently presents with dystonic symptoms. In a screen of 40 patients, we identified three variations, none of which occurred in EOP patients. Two infrequent intronic single base pair (bp) changes of unknown consequences were found in a dystonia patient and the mother of an EOP patient. An 18-bp deletion (Phe323_Tyr328del) in the TOR1A gene was found in a patient with early onset dystonia and myoclonic features. This deletion would remove 6 amino acids close to the carboxy terminus, including a putative phosphorylation site of torsinA. This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia.
PubMed: 11523564
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pubmed:11523564Le document en format XML
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Jacobs</name></author><author><name sortKey="Doheny, D" sort="Doheny, D" uniqKey="Doheny D" first="D" last="Doheny">D. Doheny</name></author><author><name sortKey="Kamm, C" sort="Kamm, C" uniqKey="Kamm C" first="C" last="Kamm">C. Kamm</name></author><author><name sortKey="Deleon, D" sort="Deleon, D" uniqKey="Deleon D" first="D" last="Deleon">D. Deleon</name></author><author><name sortKey="Pramstaller, P P" sort="Pramstaller, P P" uniqKey="Pramstaller P" first="P" last="Pramstaller">P Pramstaller</name></author><author><name sortKey="Penney, J B" sort="Penney, J B" uniqKey="Penney J" first="J" last="Penney">J Penney</name></author><author><name sortKey="Eisengart, M" sort="Eisengart, M" uniqKey="Eisengart M" first="M" last="Eisengart">M. Eisengart</name></author><author><name sortKey="Jankovic, J" sort="Jankovic, J" uniqKey="Jankovic J" first="J" last="Jankovic">J. Jankovic</name></author><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. 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Kramer</name></author><author><name sortKey="Brin, M F" sort="Brin, M F" uniqKey="Brin M" first="M" last="Brin">M Brin</name></author><author><name sortKey="Ozelius, L J" sort="Ozelius, L J" uniqKey="Ozelius L" first="L" last="Ozelius">L Ozelius</name></author><author><name sortKey="Breakefield, X O" sort="Breakefield, X O" uniqKey="Breakefield X" first="X" last="Breakefield">X Breakefield</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2001">2001</date><idno type="RBID">pubmed:11523564</idno><idno type="pmid">11523564</idno><idno type="wicri:Area/PubMed/Corpus">000246</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.</title><author><name sortKey="Leung, J C" sort="Leung, J C" uniqKey="Leung J" first="J" last="Leung">J Leung</name><affiliation><nlm:affiliation>Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C" last="Klein">C. Klein</name></author><author><name sortKey="Friedman, J" sort="Friedman, J" uniqKey="Friedman J" first="J" last="Friedman">J. Friedman</name></author><author><name sortKey="Vieregge, P" sort="Vieregge, P" uniqKey="Vieregge P" first="P" last="Vieregge">P. Vieregge</name></author><author><name sortKey="Jacobs, H" sort="Jacobs, H" uniqKey="Jacobs H" first="H" last="Jacobs">H. Jacobs</name></author><author><name sortKey="Doheny, D" sort="Doheny, D" uniqKey="Doheny D" first="D" last="Doheny">D. Doheny</name></author><author><name sortKey="Kamm, C" sort="Kamm, C" uniqKey="Kamm C" first="C" last="Kamm">C. Kamm</name></author><author><name sortKey="Deleon, D" sort="Deleon, D" uniqKey="Deleon D" first="D" last="Deleon">D. Deleon</name></author><author><name sortKey="Pramstaller, P P" sort="Pramstaller, P P" uniqKey="Pramstaller P" first="P" last="Pramstaller">P Pramstaller</name></author><author><name sortKey="Penney, J B" sort="Penney, J B" uniqKey="Penney J" first="J" last="Penney">J Penney</name></author><author><name sortKey="Eisengart, M" sort="Eisengart, M" uniqKey="Eisengart M" first="M" last="Eisengart">M. Eisengart</name></author><author><name sortKey="Jankovic, J" sort="Jankovic, J" uniqKey="Jankovic J" first="J" last="Jankovic">J. Jankovic</name></author><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name></author><author><name sortKey="Bressman, S B" sort="Bressman, S B" uniqKey="Bressman S" first="S" last="Bressman">S Bressman</name></author><author><name sortKey="Corey, D P" sort="Corey, D P" uniqKey="Corey D" first="D" last="Corey">D Corey</name></author><author><name sortKey="Kramer, P" sort="Kramer, P" uniqKey="Kramer P" first="P" last="Kramer">P. Kramer</name></author><author><name sortKey="Brin, M F" sort="Brin, M F" uniqKey="Brin M" first="M" last="Brin">M Brin</name></author><author><name sortKey="Ozelius, L J" sort="Ozelius, L J" uniqKey="Ozelius L" first="L" last="Ozelius">L Ozelius</name></author><author><name sortKey="Breakefield, X O" sort="Breakefield, X O" uniqKey="Breakefield X" first="X" last="Breakefield">X Breakefield</name></author></analytic><series><title level="j">Neurogenetics</title><idno type="ISSN">1364-6745</idno><imprint><date when="2001" type="published">2001</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Carrier Proteins (genetics)</term><term>Child</term><term>Child, Preschool</term><term>DNA Primers</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Female</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones</term><term>Mutation</term><term>Parkinson Disease (genetics)</term><term>Pedigree</term><term>Polymerase Chain Reaction</term><term>Polymorphism, Genetic</term><term>Polymorphism, Single-Stranded Conformational</term><term>Sequence Deletion</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Child</term><term>Child, Preschool</term><term>DNA Primers</term><term>Female</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones</term><term>Mutation</term><term>Pedigree</term><term>Polymerase Chain Reaction</term><term>Polymorphism, Genetic</term><term>Polymorphism, Single-Stranded Conformational</term><term>Sequence Deletion</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Dystonia is a movement disorder involving sustained muscle contractions and abnormal posturing with a strong hereditary predisposition and without a distinct neuropathology. In this study the TOR1A (DYT1) gene was screened for mutations in cases of early onset dystonia and early onset parkinsonism (EOP), which frequently presents with dystonic symptoms. In a screen of 40 patients, we identified three variations, none of which occurred in EOP patients. Two infrequent intronic single base pair (bp) changes of unknown consequences were found in a dystonia patient and the mother of an EOP patient. An 18-bp deletion (Phe323_Tyr328del) in the TOR1A gene was found in a patient with early onset dystonia and myoclonic features. This deletion would remove 6 amino acids close to the carboxy terminus, including a putative phosphorylation site of torsinA. This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">11523564</PMID><DateCreated><Year>2001</Year><Month>08</Month><Day>28</Day></DateCreated><DateCompleted><Year>2002</Year><Month>01</Month><Day>16</Day></DateCompleted><DateRevised><Year>2007</Year><Month>11</Month><Day>14</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1364-6745</ISSN><JournalIssue CitedMedium="Print"><Volume>3</Volume><Issue>3</Issue><PubDate><Year>2001</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Neurogenetics</Title><ISOAbbreviation>Neurogenetics</ISOAbbreviation></Journal><ArticleTitle>Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.</ArticleTitle><Pagination><MedlinePgn>133-43</MedlinePgn></Pagination><Abstract><AbstractText>Dystonia is a movement disorder involving sustained muscle contractions and abnormal posturing with a strong hereditary predisposition and without a distinct neuropathology. In this study the TOR1A (DYT1) gene was screened for mutations in cases of early onset dystonia and early onset parkinsonism (EOP), which frequently presents with dystonic symptoms. In a screen of 40 patients, we identified three variations, none of which occurred in EOP patients. Two infrequent intronic single base pair (bp) changes of unknown consequences were found in a dystonia patient and the mother of an EOP patient. An 18-bp deletion (Phe323_Tyr328del) in the TOR1A gene was found in a patient with early onset dystonia and myoclonic features. This deletion would remove 6 amino acids close to the carboxy terminus, including a putative phosphorylation site of torsinA. This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Leung</LastName><ForeName>J C</ForeName><Initials>JC</Initials><AffiliationInfo><Affiliation>Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Klein</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Friedman</LastName><ForeName>J</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Vieregge</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Jacobs</LastName><ForeName>H</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Doheny</LastName><ForeName>D</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Kamm</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>DeLeon</LastName><ForeName>D</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Pramstaller</LastName><ForeName>P P</ForeName><Initials>PP</Initials></Author><Author ValidYN="Y"><LastName>Penney</LastName><ForeName>J B</ForeName><Initials>JB</Initials></Author><Author ValidYN="Y"><LastName>Eisengart</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Jankovic</LastName><ForeName>J</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Gasser</LastName><ForeName>T</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Bressman</LastName><ForeName>S B</ForeName><Initials>SB</Initials></Author><Author ValidYN="Y"><LastName>Corey</LastName><ForeName>D P</ForeName><Initials>DP</Initials></Author><Author ValidYN="Y"><LastName>Kramer</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Brin</LastName><ForeName>M F</ForeName><Initials>MF</Initials></Author><Author ValidYN="Y"><LastName>Ozelius</LastName><ForeName>L J</ForeName><Initials>LJ</Initials></Author><Author ValidYN="Y"><LastName>Breakefield</LastName><ForeName>X O</ForeName><Initials>XO</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>NS28384</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>NS37409</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>NS38142</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Neurogenetics</MedlineTA><NlmUniqueID>9709714</NlmUniqueID><ISSNLinking>1364-6745</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D002352">Carrier Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D017931">DNA Primers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018832">Molecular Chaperones</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C108175">TOR1A protein, human</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="D017668">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002352">Carrier Proteins</DescriptorName><QualifierName MajorTopicYN="Y" 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="D017931">DNA Primers</DescriptorName></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="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="Y" UI="D018832">Molecular Chaperones</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016133">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D011110">Polymorphism, Genetic</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018807">Polymorphism, Single-Stranded Conformational</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017384">Sequence Deletion</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2001</Year><Month>8</Month><Day>29</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2002</Year><Month>1</Month><Day>17</Day><Hour>10</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2001</Year><Month>8</Month><Day>29</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">11523564</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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