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Case Reports
. 2009 Mar;41(3):286-8.
doi: 10.1038/ng.304. Epub 2009 Feb 1.

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

Tania Fuchs  1 , Sophie Gavarini, Rachel Saunders-Pullman, Deborah Raymond, Michelle E Ehrlich, Susan B Bressman, Laurie J Ozelius
Affiliations
Case Reports

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

Tania Fuchs et al. Nat Genet. 2009 Mar.

Abstract

We report the discovery of a mutation in the THAP1 gene in three Amish-Mennonite families with mixed-onset primary torsion dystonia (also known as DYT6 dystonia). Another mutation in a German family with primary torsion dystonia suggests that THAP1 mutations also cause dystonia in other ancestry groups. We demonstrate that the missense mutation impairs DNA binding, suggesting that transcriptional dysregulation may contribute to the phenotype of DYT6 dystonia.

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