MovDisordV3, Hal, Corpus, bibRecord, 000063

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

Identifieur interne : 000063 ( Hal/Corpus ); précédent : 000062; suivant : 000064

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 :

Movement Disorders [ 0885-3185 ] ; 2009-04-30.

RBID : Hal:inserm-00396259

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.

Url:

http://www.hal.inserm.fr/inserm-00396259

DOI: 10.1002/mds.22407

Links to Exploration step

Hal:inserm-00396259

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en">The p.Asp216His TOR1A allele effect is not found in the French population.</title>
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<front><div type="abstract" xml:lang="en">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.</div>
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<author role="aut"><persName><forename type="first">Mélissa Yana</forename>
<surname>Frédéric</surname>
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</author>
<author role="aut"><persName><forename type="first">Alexandra</forename>
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<author role="aut"><persName><forename type="first">Nicolas</forename>
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<author role="aut"><persName><forename type="first">Mireille</forename>
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<abstract xml:lang="en">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.</abstract>
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	Movement Disorders (revue)
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Movement Disorders (revue)

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

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

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