THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.
Identifieur interne : 000C76 ( PubMed/Curation ); précédent : 000C75; suivant : 000C77THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.
Auteurs : Georgia Xiromerisiou [Grèce] ; Henry Houlden ; Nikolaos Scarmeas ; Maria Stamelou ; Eleanna Kara ; John Hardy ; Andrew J. Lees ; Prasad Korlipara ; Patricia Limousin ; Reema Paudel ; Georgios M. Hadjigeorgiou ; Kailash P. BhatiaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Adolescent, Adult, Apoptosis Regulatory Proteins (genetics), DNA-Binding Proteins (genetics), Databases, Factual (statistics & numerical data), Diagnosis, Computer-Assisted, Dystonia (genetics), Dystonia (mortality), Dystonia (physiopathology), Female, Genetic Predisposition to Disease (genetics), Genotype, Humans, Male, Middle Aged, Mutation (genetics), Nuclear Proteins (genetics), Phenotype, Predictive Value of Tests, Survival Analysis, Young Adult.
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Nuclear Proteins.
- genetics : Dystonia, Genetic Predisposition to Disease, Mutation.
- mortality : Dystonia.
- physiopathology : Dystonia.
- statistics & numerical data : Databases, Factual.
- Adolescent, Adult, Diagnosis, Computer-Assisted, Female, Genotype, Humans, Male, Middle Aged, Phenotype, Predictive Value of Tests, Survival Analysis, Young Adult.
Abstract
THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns. Here, we screened the THAP1 gene in a further series of dystonia cases and evaluated the mutation pathogenicity in this series as well as previously reported mutations to investigate possible phenotype-genotype correlations. THAP1 mutations have been identified throughout the coding region of the gene, with the greatest concentration of variants localized to the THAP1 domain. In the additional cases analyzed here, a further two mutations were found. No obvious, indisputable genotype-phenotype correlation emerged from these data. However, we managed to find a correlation between the pathogenicity of mutations, distribution, and age of onset of dystonia. THAP1 mutations are an important cause of dystonia, but, as yet, no clear genotype-phenotype correlations have been identified. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various THAP1 mutations. © 2012 Movement Disorder Society.
DOI: 10.1002/mds.25146
PubMed: 22903657
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Lees</name></author><author><name sortKey="Korlipara, Prasad" sort="Korlipara, Prasad" uniqKey="Korlipara P" first="Prasad" last="Korlipara">Prasad Korlipara</name></author><author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name></author><author><name sortKey="Paudel, Reema" sort="Paudel, Reema" uniqKey="Paudel R" first="Reema" last="Paudel">Reema Paudel</name></author><author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M" last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</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="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Apoptosis Regulatory Proteins (genetics)</term><term>DNA-Binding Proteins (genetics)</term><term>Databases, Factual (statistics & numerical data)</term><term>Diagnosis, Computer-Assisted</term><term>Dystonia (genetics)</term><term>Dystonia (mortality)</term><term>Dystonia (physiopathology)</term><term>Female</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Nuclear Proteins (genetics)</term><term>Phenotype</term><term>Predictive Value of Tests</term><term>Survival Analysis</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>Nuclear Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Genetic Predisposition to Disease</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="mortality" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>Databases, Factual</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Diagnosis, Computer-Assisted</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term><term>Predictive Value of Tests</term><term>Survival Analysis</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns. Here, we screened the THAP1 gene in a further series of dystonia cases and evaluated the mutation pathogenicity in this series as well as previously reported mutations to investigate possible phenotype-genotype correlations. THAP1 mutations have been identified throughout the coding region of the gene, with the greatest concentration of variants localized to the THAP1 domain. In the additional cases analyzed here, a further two mutations were found. No obvious, indisputable genotype-phenotype correlation emerged from these data. However, we managed to find a correlation between the pathogenicity of mutations, distribution, and age of onset of dystonia. THAP1 mutations are an important cause of dystonia, but, as yet, no clear genotype-phenotype correlations have been identified. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various THAP1 mutations. © 2012 Movement Disorder Society.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">22903657</PMID><DateCreated><Year>2012</Year><Month>09</Month><Day>14</Day></DateCreated><DateCompleted><Year>2013</Year><Month>02</Month><Day>14</Day></DateCompleted><DateRevised><Year>2015</Year><Month>01</Month><Day>14</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>27</Volume><Issue>10</Issue><PubDate><Year>2012</Year><Month>Sep</Month><Day>1</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.</ArticleTitle><Pagination><MedlinePgn>1290-4</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25146</ELocationID><Abstract><AbstractText>THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns. Here, we screened the THAP1 gene in a further series of dystonia cases and evaluated the mutation pathogenicity in this series as well as previously reported mutations to investigate possible phenotype-genotype correlations. THAP1 mutations have been identified throughout the coding region of the gene, with the greatest concentration of variants localized to the THAP1 domain. In the additional cases analyzed here, a further two mutations were found. No obvious, indisputable genotype-phenotype correlation emerged from these data. However, we managed to find a correlation between the pathogenicity of mutations, distribution, and age of onset of dystonia. THAP1 mutations are an important cause of dystonia, but, as yet, no clear genotype-phenotype correlations have been identified. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various THAP1 mutations. © 2012 Movement Disorder Society.</AbstractText><CopyrightInformation>Copyright © 2012 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Xiromerisiou</LastName><ForeName>Georgia</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology, London, London, United Kingdom; Department of Neurology, Faculty of Medicine University of Thessaly, Larissa, Greece. geoksirom@med.uth.gr</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Houlden</LastName><ForeName>Henry</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Scarmeas</LastName><ForeName>Nikolaos</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Stamelou</LastName><ForeName>Maria</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Kara</LastName><ForeName>Eleanna</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Hardy</LastName><ForeName>John</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Lees</LastName><ForeName>Andrew J</ForeName><Initials>AJ</Initials></Author><Author ValidYN="Y"><LastName>Korlipara</LastName><ForeName>Prasad</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Limousin</LastName><ForeName>Patricia</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Paudel</LastName><ForeName>Reema</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Hadjigeorgiou</LastName><ForeName>Georgios M</ForeName><Initials>GM</Initials></Author><Author ValidYN="Y"><LastName>Bhatia</LastName><ForeName>Kailash P</ForeName><Initials>KP</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>089698</GrantID><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G-0907</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0701075</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0802760</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G1001253</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2012</Year><Month>08</Month><Day>17</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="D009687">Nuclear Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C474080">THAP1 protein, 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