MovDisordV3, Main, Exploration, bibRecord, 001A17

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

Identifieur interne : 001A17 ( Main/Exploration ); précédent : 001A16; suivant : 001A18

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

Auteurs : Patricia De Carvalho Aguiar [Brésil] ; Tania Fuchs [États-Unis] ; Vanderci Borges [Brésil] ; Kay-Marie Lamar [États-Unis] ; Sonia Maria Azevedo Silva [Brésil] ; Henrique Ballalai Ferraz [Brésil] ; Laurie Ozelius [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2010-12-15.

RBID : ISTEX:91788C6263C7B72474D524BBA792F4E681B1E0B1

Descripteurs français

Pascal (Inist)
- De novo, Dystonie, Délétion, Dépistage, Mutation, Pathologie du système nerveux.
Wicri :
- geographic : Brésil.

English descriptors

KwdEn :
- Adolescent, Adult, Apoptosis Regulatory Proteins (genetics), Brazil, Child, DNA-Binding Proteins (genetics), DYT1, DYT6, De novo, Deletion, Dystonia, Dystonic Disorders (genetics), Female, Genetic Testing, Humans, Male, Medical screening, Middle Aged, Molecular Chaperones (genetics), Mutation, Nervous system diseases, Nuclear Proteins (genetics), Pedigree, Sequence Deletion, THAP1, TOR1A, de novo mutation, dystonia.
MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Molecular Chaperones, Nuclear Proteins.
- geographic : Brazil.
- genetics : Dystonic Disorders.
- Adolescent, Adult, Child, Female, Genetic Testing, Humans, Male, Middle Aged, Pedigree, Sequence Deletion.

Abstract

The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAP1 in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD. © 2010 Movement Disorder Society

Url:

https://api.istex.fr/document/91788C6263C7B72474D524BBA792F4E681B1E0B1/fulltext/pdf

DOI: 10.1002/mds.23133

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en">The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAP1 in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD. © 2010 Movement Disorder Society</div>
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Movement Disorders (revue)

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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