MovDisordV3, Main, Exploration, bibRecord, 001633

Homozygous THAP1 mutations as cause of early‐onset generalized dystonia

Identifieur interne : 001633 ( Main/Exploration ); précédent : 001632; suivant : 001634

Homozygous THAP1 mutations as cause of early‐onset generalized dystonia

Auteurs : Susanne A. Schneider [Allemagne, Royaume-Uni] ; Alfredo Ramirez [Allemagne] ; Kaveh Shafiee [Iran] ; Frank J. Kaiser [Allemagne] ; Alev Erogullari [Allemagne] ; Norbert Brüggemann [Allemagne] ; Susen Winkler [Allemagne] ; Ideh Bahman [Iran] ; Alma Osmanovic [Allemagne] ; Mohammad A. Shafa [Iran] ; Kailish P. Bhatia [Royaume-Uni] ; Hossein Najmabadi [Iran] ; Christine Klein [Allemagne] ; Katja Lohmann [Allemagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2011-04.

RBID : ISTEX:3EF8CF33F0B2C0602AEE55D5EB7B0C1BAD7E801E

Descripteurs français

Pascal (Inist)
- Analyse fonctionnelle, Dystonie, Homozygotie, Mutation, Pathologie du système nerveux.

English descriptors

KwdEn :
- Adult, Apoptosis Regulatory Proteins (genetics), Carcinoma (pathology), Cell Line, Tumor, Consanguinity, DNA-Binding Proteins (genetics), Dystonia, Dystonia (genetics), Female, Functional analysis, Genetic Predisposition to Disease (genetics), Genome-Wide Association Study, Histidine (genetics), Homozygosity, Homozygote, Humans, Iran, Leucine (genetics), Male, Middle Aged, Mutation, Mutation (genetics), Nervous system diseases, Nuclear Proteins (genetics), Pedigree, THAP1, dystonia, functional analysis, homozygous mutation.
MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Histidine, Leucine, Nuclear Proteins.
- geographic : Iran.
- genetics : Dystonia, Genetic Predisposition to Disease, Mutation.
- pathology : Carcinoma.
- Adult, Cell Line, Tumor, Consanguinity, Female, Genome-Wide Association Study, Homozygote, Humans, Male, Middle Aged, Pedigree.

Abstract

To identify the underlying genetic cause in a consanguineous family with apparently recessively inherited dystonia, we performed genome‐wide homozygosity mapping. This revealed 2 candidate regions including the THAP1 gene, where heterozygous mutations cause dystonia 6. A homozygous missense mutation in THAP1 (c.95T>A; p.Leu32His) was found in all 3 affected siblings. Symptoms started in childhood in the legs and became generalized within a few years. Three heterozygous mutation carriers were unaffected. Because THAP1 regulates the expression of the DYT1 gene, we used reporter gene assays to show that DYT1 expression was significantly increased for Leu32His. However, this increase was less pronounced than for other THAP1 mutations that cause dystonia in the heterozygous state. Our data suggest that homozygous THAP1 mutations cause dystonia and may be associated with a less severe dysfunction of the encoded protein compared with heterozygous disease‐causing mutations. © 2011 Movement Disorder Society

Url:

https://api.istex.fr/document/3EF8CF33F0B2C0602AEE55D5EB7B0C1BAD7E801E/fulltext/pdf

DOI: 10.1002/mds.23561

Affiliations:

Le document en format XML

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<term>Apoptosis Regulatory Proteins (genetics)</term>
<term>Carcinoma (pathology)</term>
<term>Cell Line, Tumor</term>
<term>Consanguinity</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Dystonia</term>
<term>Dystonia (genetics)</term>
<term>Female</term>
<term>Functional analysis</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genome-Wide Association Study</term>
<term>Histidine (genetics)</term>
<term>Homozygosity</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Iran</term>
<term>Leucine (genetics)</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>Pedigree</term>
<term>THAP1</term>
<term>dystonia</term>
<term>functional analysis</term>
<term>homozygous mutation</term>
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<term>DNA-Binding Proteins</term>
<term>Histidine</term>
<term>Leucine</term>
<term>Nuclear Proteins</term>
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<term>Mutation</term>
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<term>Cell Line, Tumor</term>
<term>Consanguinity</term>
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<term>Genome-Wide Association Study</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
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<front><div type="abstract" xml:lang="en">To identify the underlying genetic cause in a consanguineous family with apparently recessively inherited dystonia, we performed genome‐wide homozygosity mapping. This revealed 2 candidate regions including the THAP1 gene, where heterozygous mutations cause dystonia 6. A homozygous missense mutation in THAP1 (c.95T>A; p.Leu32His) was found in all 3 affected siblings. Symptoms started in childhood in the legs and became generalized within a few years. Three heterozygous mutation carriers were unaffected. Because THAP1 regulates the expression of the DYT1 gene, we used reporter gene assays to show that DYT1 expression was significantly increased for Leu32His. However, this increase was less pronounced than for other THAP1 mutations that cause dystonia in the heterozygous state. Our data suggest that homozygous THAP1 mutations cause dystonia and may be associated with a less severe dysfunction of the encoded protein compared with heterozygous disease‐causing mutations. © 2011 Movement Disorder Society</div>
</front>
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Movement Disorders (revue)

Homozygous THAP1 mutations as cause of early‐onset generalized dystonia

Homozygous THAP1 mutations as cause of early‐onset generalized dystonia

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English descriptors

Abstract

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	Movement Disorders (revue)
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