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Research Article

High variability of clinical symptoms in a Polish family with a novel THAP1 mutation

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Pages 755-759 | Received 18 Sep 2014, Accepted 23 Oct 2014, Published online: 11 Nov 2014

References

  • Fuchs T, Gavarini S, Saunders-Pullman R, et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009;41(3):286–88.
  • Ozelius LJ, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17(1):40–48.
  • Xiromerisiou G, Houlden H, Scarmeas N, et al. THAP1 mutations and dystonia phenotypes. genotype phenotype correlations. Mov Disord 2012;27(10):1290–94.
  • Roussigne M, Cayrol C, Clouaire T, et al. THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies. Oncogene 2003;22(16):2432–42.
  • Cayrol C, Lacroix C, Mathe C, et al. The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes. Blood 2007;109(2):584–94.
  • Ozelius LJ, Bressman SB. Genetic and clinical features of primary torsion dystonia. Neurobiol Dis 2011;42(2):127–35.
  • Bonetti M, Barzaghi C, Brancati F, et al. Mutation screening of the DYT6/THAP1 gene in Italy. Mov Disord 2009;24(16):2424–27.
  • Bressman SB, Raymond D, Fuchs T, et al. Mutations in THAP1 (DYT6) in early-onset dystonia. a genetic screening study. Lancet Neurol 2009;8(5):441–46.
  • Cheng FB, Wan XH, Feng JC, et al. Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China. Eur J Neurol 2011;18(3):497–503.
  • Djarmati A, Schneider SA, Lohmann K, et al. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia. A genetic screening study. Lancet Neurol 2009;8(5):447–52.
  • Sohn AS, Glockle N, Doetzer AD, et al. Prevalence of THAP1 sequence variants in German patients with primary dystonia. Mov Disord 2010;25(12):1982–86.
  • Van Gerpen JA, Ledoux MS, Wszolek ZK. Adult-onset leg dystonia due to a missense mutation in THAP1. Mov Disord 2010;25(9):1306–07.
  • LeDoux MS, Xiao J, Rudzińska M, et al. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism Relat Disord 2012;18(5):414–25.
  • Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7(4):248–49.
  • Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet 2013;7,7.20.
  • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4(7):1073–81.
  • Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010;7(8):575–76.
  • Stelzer G, Dalah I, Iny Stein T, et al. In-silico human genomics with genecards. Human Genomics 2011;5(6):709–17.
  • Clouaire T, Roussigne M, Ecochard V, et al. The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA binding activity. Proc Natl Acad Sci U S A 2005;102(19):6907–12.
  • Bessiere D, Lacroix C, Campagne S, et al. Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways. J Biol Chem 2008;283(7):4352–63.
  • Cheng FB, Ozelius LJ, Wan XH, et al. THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. J Neurol 2012;259(2):342–47.

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