Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

Mov Disord. 2010 Dec 15;25(16):2854-7. doi: 10.1002/mds.23133.

Abstract

The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAP1 in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Apoptosis Regulatory Proteins / genetics*
  • Brazil
  • Child
  • DNA-Binding Proteins / genetics*
  • Dystonic Disorders / genetics*
  • Female
  • Genetic Testing
  • Humans
  • Male
  • Middle Aged
  • Molecular Chaperones / genetics*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Sequence Deletion

Substances

  • Apoptosis Regulatory Proteins
  • DNA-Binding Proteins
  • Molecular Chaperones
  • Nuclear Proteins
  • THAP1 protein, human
  • TOR1A protein, human