MovDisordV3, Ncbi, Checkpoint, bibRecord, 003770

THAP1 Mutations and Dystonia Phenotypes: Genotype Phenotype Correlations

Identifieur interne : 003770 ( Ncbi/Checkpoint ); précédent : 003769; suivant : 003771

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 : PMC:3664430

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

Url:

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

DOI: 10.1002/mds.25146
PubMed: 22903657
PubMed Central: 3664430

Affiliations:

Links to Exploration step

PMC:3664430

Le document en format XML

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<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>
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</keywords>
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<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>
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<front><div type="abstract" xml:lang="en"><p><italic>THAP1</italic>
 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the <italic>THAP1</italic>
 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 <italic>THAP1</italic>
 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 <italic>THAP1</italic>
 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 <italic>Movement</italic>
 Disorder Society</p>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Asmus, F" uniqKey="Asmus F">F Asmus</name>
</author>
<author><name sortKey="Gasser, T" uniqKey="Gasser T">T Gasser</name>
</author>
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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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