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

✍ Scribed by 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

Book ID
102505906
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
305 KB
Volume
24
Category
Article
ISSN
0885-3185

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✦ Synopsis

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

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