期刊
NATURE GENETICS
卷 41, 期 3, 页码 286-288出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.304
关键词
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资金
- Dystonia Medical Research Foundation
- Bachmann-Strauss Dystonia and Parkinson Foundation
- National Institute of Neurological Disorders and Stroke [NS26636, K23NS047256]
- National Institute of Aging [AG19085]
- Aaron Aronov Family Foundation
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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