2. Academic Validation
  3. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

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

  • Nat Genet. 2009 Mar;41(3):286-8. doi: 10.1038/ng.304.
Tania Fuchs 1,  Sophie Gavarini,  Rachel Saunders-Pullman,  Deborah Raymond,  Michelle E Ehrlich,  Susan B Bressman,  Laurie J Ozelius
Affiliations

Affiliation

  • 1 Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York 10029, USA.
PMID: 19182804 DOI: 10.1038/ng.304
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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