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.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Aged
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Apoptosis Regulatory Proteins / genetics*
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Apoptosis Regulatory Proteins / physiology
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Base Sequence
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Child
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DNA Mutational Analysis
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DNA-Binding Proteins / genetics*
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DNA-Binding Proteins / physiology
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Dystonia / genetics*
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Family
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Female
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Humans
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Male
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Middle Aged
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Molecular Sequence Data
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Mutation, Missense / physiology*
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Nuclear Proteins / genetics*
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Nuclear Proteins / physiology
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Sequence Homology, Nucleic Acid
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Young Adult
Substances
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Apoptosis Regulatory Proteins
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DNA-Binding Proteins
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Nuclear Proteins
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THAP1 protein, human