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- Title
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
- Authors
Fuchs, Tania; Gavarini, Sophie; Saunders-Pullman, Rachel; Raymond, Deborah; Ehrlich, Michelle E.; Bressman, Susan B.; Ozelius, Laurie J.
- 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.
- Subjects
GENETIC mutation; DYSTONIA musculorum deformans; GENES; PHENOTYPES; GENETIC research
- Publication
Nature Genetics, 2009, Vol 41, Issue 3, p286
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.304