Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
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DOI：
10.1038/ng.304
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发表时间：
2009-03-01
期刊：
影响因子：
30.8
通讯作者：
Ozelius, Laurie J.
中科院分区：
文献类型：
--
作者：
Fuchs, Tania;Gavarini, Sophie;Ozelius, Laurie J.
我们报告了在三个阿米什-门诺派家族中发现的THAP 1基因突变，这些家族患有混合型原发性扭转肌张力障碍（也称为DYT 6肌张力障碍）。在一个德国原发性扭转肌张力障碍家族中的另一个突变表明THAP 1突变也会导致其他祖先群体的肌张力障碍。我们证明，错义突变损害DNA结合，这表明转录失调可能有助于DYT 6肌张力障碍的表型。
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.