MovDisordV3, Main, Exploration, bibRecord, 000F66

THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations

Identifieur interne : 000F66 ( Main/Exploration ); précédent : 000F65; suivant : 000F67

THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations

Auteurs : Georgia Xiromerisiou [Royaume-Uni, Grèce] ; Henry Houlden [Royaume-Uni] ; Nikolaos Scarmeas [États-Unis, Grèce] ; Maria Stamelou [Royaume-Uni] ; Eleanna Kara [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni] ; Prasad Korlipara [Royaume-Uni] ; Patricia Limousin [Royaume-Uni] ; Reema Paudel [Royaume-Uni] ; Georgios M. Hadjigeorgiou [Grèce] ; Kailash P. Bhatia [Royaume-Uni]

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:12-0369633

Descripteurs français

Pascal (Inist)
- Dystonie, Pathologie du système nerveux, Mutation, Phénotype, Génotype.

English descriptors

KwdEn :
- Adolescent, Adult, Apoptosis Regulatory Proteins (genetics), DNA-Binding Proteins (genetics), Databases, Factual (statistics & numerical data), Diagnosis, Computer-Assisted, Dystonia, Dystonia (genetics), Dystonia (mortality), Dystonia (physiopathology), Female, Genetic Predisposition to Disease (genetics), Genotype, Humans, Male, Middle Aged, Mutation, Mutation (genetics), Nervous system diseases, 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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664430

Affiliations:

Le document en format XML

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<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations</title>
<author><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
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<author><name sortKey="Korlipara, Prasad" sort="Korlipara, Prasad" uniqKey="Korlipara P" first="Prasad" last="Korlipara">Prasad Korlipara</name>
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<s2>London</s2>
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<author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name>
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<s2>London</s2>
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<author><name sortKey="Paudel, Reema" sort="Paudel, Reema" uniqKey="Paudel R" first="Reema" last="Paudel">Reema Paudel</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
<s2>London, London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Faculty of Medicine University of Thessaly</s1>
<s2>Larissa</s2>
<s3>GRC</s3>
<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Grèce</country>
<wicri:noRegion>Larissa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</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</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</term>
<term>Mutation (genetics)</term>
<term>Nervous system diseases</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>
<keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term>
<term>Pathologie du   système nerveux</term>
<term>Mutation</term>
<term>Phénotype</term>
<term>Génotype</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.</div>
</front>
</TEI>
<affiliations><list><country><li>Grèce</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
<li>État de New York</li>
</region>
<settlement><li>Londres</li>
<li>New York</li>
</settlement>
<orgName><li>National Hospital for Neurology and Neurosurgery</li>
<li>Université Columbia</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name>
</region>
<name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<name sortKey="Kara, Eleanna" sort="Kara, Eleanna" uniqKey="Kara E" first="Eleanna" last="Kara">Eleanna Kara</name>
<name sortKey="Korlipara, Prasad" sort="Korlipara, Prasad" uniqKey="Korlipara P" first="Prasad" last="Korlipara">Prasad Korlipara</name>
<name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name>
<name sortKey="Paudel, Reema" sort="Paudel, Reema" uniqKey="Paudel R" first="Reema" last="Paudel">Reema Paudel</name>
<name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name>
</country>
<country name="Grèce"><noRegion><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name>
</noRegion>
<name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
<name sortKey="Scarmeas, Nikolaos" sort="Scarmeas, Nikolaos" uniqKey="Scarmeas N" first="Nikolaos" last="Scarmeas">Nikolaos Scarmeas</name>
</country>
<country name="États-Unis"><region name="État de New York"><name sortKey="Scarmeas, Nikolaos" sort="Scarmeas, Nikolaos" uniqKey="Scarmeas N" first="Nikolaos" last="Scarmeas">Nikolaos Scarmeas</name>
</region>
</country>
</tree>
</affiliations>
</record>

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Movement Disorders (revue)

THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations

THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations

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