Skip to Main content Skip to Navigation
Journal articles

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

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.
Document type :
Journal articles
Complete list of metadatas

Cited literature [6 references]  Display  Hide  Download

https://www.hal.inserm.fr/inserm-00396259
Contributor : Gwenaëlle Collod-Beroud <>
Submitted on : Wednesday, December 20, 2017 - 6:55:12 PM
Last modification on : Tuesday, October 20, 2020 - 3:14:04 AM

File

2009-MovDisord ...
Files produced by the author(s)

Identifiers

Citation

Mélissa Yana Frédéric, Fabienne Clot, Arnaud Blanchard, Claire-Marie Dhaenens, Gaetan Lesca, et al.. The p.Asp216His TOR1A allele effect is not found in the French population.. Movement Disorders, Wiley, 2009, 24 (6), pp.919-21. ⟨10.1002/mds.22407⟩. ⟨inserm-00396259⟩

Share

Metrics

Record views

435

Files downloads

483