The p.Asp216His TOR1A allele effect is not found in the French population.
Identifieur interne : 002591 ( Ncbi/Curation ); précédent : 002590; suivant : 002592The p.Asp216His TOR1A allele effect is not found in the French population.
Auteurs : Mélissa Yana Frédéric [France] ; 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-BeroudSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
Descripteurs français
- Wicri :
- geographic : France.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Aspartic Acid, Histidine, Molecular Chaperones.
- geographic , epidemiology : France.
- geographic , ethnology : France.
- genetics : Dystonic Disorders, Polymorphism, Single Nucleotide.
- Alleles, DNA Mutational Analysis, Gene Frequency, Humans.
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.
DOI: 10.1002/mds.22407
PubMed: 19260107
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pubmed:19260107Le document en format XML
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<author><name sortKey="Tuffery Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name>
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<author><name sortKey="Molinari, Nicolas" sort="Molinari, Nicolas" uniqKey="Molinari N" first="Nicolas" last="Molinari">Nicolas Molinari</name>
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<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
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<author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name>
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<term>DNA Mutational Analysis</term>
<term>Dystonic Disorders (genetics)</term>
<term>France (epidemiology)</term>
<term>France (ethnology)</term>
<term>Gene Frequency</term>
<term>Histidine (genetics)</term>
<term>Humans</term>
<term>Molecular Chaperones (genetics)</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
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<term>Histidine</term>
<term>Molecular Chaperones</term>
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<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>France</term>
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<keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>France</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>Polymorphism, Single Nucleotide</term>
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<keywords scheme="MESH" xml:lang="en"><term>Alleles</term>
<term>DNA Mutational Analysis</term>
<term>Gene Frequency</term>
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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>
</front>
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