Identification and functional analysis of novel THAP1 mutations

  title={Identification and functional analysis of novel THAP1 mutations},
  author={Katja Lohmann and Nils Uflacker and Alev Erogullari and Thora Lohnau and Susen Winkler and Andreas Dendorfer and S. A. Schneider and Alma Osmanovic and Marina V. Svetel and Andreas Ferbert and Simone Zittel and Andrea A. K{\"u}hn and Alexander Schmidt and Eckart Altenm{\"u}ller and Alexander M{\"u}nchau and Christoph Kamm and Matthias Wittstock and Andreas Kupsch and Elena Moro and Jens Volkmann and Vladimir S. Kostic and Frank J. Kaiser and Christine Klein and Norbert Br{\"u}ggemann},
  journal={European Journal of Human Genetics},
Mutations in THAP1 have been associated with dystonia 6 (DYT6). THAP1 encodes a transcription factor that represses the expression of DYT1. To further evaluate the mutational spectrum of THAP1 and its associated phenotype, we sequenced THAP1 in 567 patients with focal (n=461), segmental (n=68), or generalized dystonia (n=38). We identified 10 novel variants, including six missense substitutions within the DNA-binding Thanatos-associated protein domain (Arg13His, Lys16Glu, His23Pro, Lys24Glu… CONTINUE READING