Movement Disorders (revue)

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The p.Asp216His TOR1A allele effect is not found in the French population

Identifieur interne : 001412 ( Istex/Corpus ); précédent : 001411; suivant : 001413

The p.Asp216His TOR1A allele effect is not found in the French population

Auteurs : Mélissa Yana Frédéric ; Fabienne Clot ; Arnaud Blanchard ; Claire-Marie Dhaenens ; Gaëtan Lesca ; Laura Cif ; Alexandra Dürr ; Marie Vidailhet ; Bernard Sablonniere ; Alain Calender ; Maria Martinez ; Nicolas Molinari ; Alexis Brice ; Mireille Claustres ; Sylvie Tuffery-Giraud ; Gwenaëlle Collod-Beroud

Source :

RBID : ISTEX:DB787F55A9A4FE6C41D77828B89D3783BA73103F

English descriptors

Abstract

DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population. © 2008 Movement Disorder Society

Url:
DOI: 10.1002/mds.22407

Links to Exploration step

ISTEX:DB787F55A9A4FE6C41D77828B89D3783BA73103F

Le document en format XML

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<name sortKey="Collod Eroud, Gwenaelle" sort="Collod Eroud, Gwenaelle" uniqKey="Collod Eroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name>
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<title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
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<term>DYT1</term>
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<div type="abstract" xml:lang="fr">DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population. © 2008 Movement Disorder Society</div>
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<abstract lang="fr">DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population. © 2008 Movement Disorder Society</abstract>
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