Medline ® Abstract for Reference 45
of 'Classification and evaluation of dystonia'
45
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Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
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Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ
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Nat Genet. 2009;41(3):286. Epub 2009 Feb 1.
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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Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York 10029, USA.
PMID