Mutations in the THAP1 Gene Are Responsible for DYT6 Primary Torsion Dystonia

Overview

Journal Nat Genet

Specialty Genetics

Date 2009 Feb 3

PMID 19182804

Citations 134

Authors

Tania Fuchs

Sophie Gavarini

Rachel Saunders-Pullman

Deborah Raymond

Michelle E Ehrlich

Susan B Bressman

Laurie J Ozelius

Affiliations

Soon will be listed here.

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.

Citing Articles

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Loss-of-function mutations in the dystonia gene THAP1 impair proteasome function by inhibiting PSMB5 expression.

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Emerging role of a systems biology approach to elucidate factors of reduced penetrance: transcriptional changes in -linked dystonia as an example.

Diaw S, Ott F, Munchau A, Lohmann K, Busch H Med Genet. 2024; 34(2):131-141.

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Transcriptional regulatory network for neuron-glia interactions and its implication for DYT6 dystonia.

Yellajoshyula D Dystonia. 2024; 2.

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