title: Novel THAP1 gene mutations in patients with primary dystonia from southwest China.
abstract: BACKGROUND
  Clinical presentation and DYT6/THAP1 mutations among Chinese patients with primary dystonia have not been well studied.
  
  
  METHODS
  Patients with primary pure dystonia from Southwest China who did not have a mutation in DYT1 exon 5 were included in the present study. Mutations of the THAP1 gene were screened by direct sequencing.
  
  
  RESULTS
  A total of 231 patients were examined. Cervical dystonia (58.47%) was found to be the most frequent form of focal dystonia. Novel heterozygous missense mutation [c.521A>G (p.E174G)] was found in exon 3 of the THAP1 gene in one patient and one insertion mutation [c.214_215InsA (p.L72fsX86)] in exon 2 in another. Initial symptoms of patients with these mutations were early-onset cervical dystonia. Both patients had no dysarthria. A silent change [c.489C>G (p.L63L)] in exon 3 was identified in three patients with Meige syndrome.
  
  
  CONCLUSIONS
  The mutation frequency of the THAP1 gene was 0.87% in Chinese patients with primary pure dystonia, similar to the mutation frequency found in other ethnic groups. Patients presenting with early-onset cervical dystonia should be screened for THAP1 gene mutations to fully assess all the possible etiologies of dystonia. Further studies are needed for p.L63L in THAP1 in Meige syndrome.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu Sichuan, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Song
authors.forename: Yongping
authors.initials: Y
authors.lastname: Chen
authors.forename: Rui
authors.initials: R
authors.lastname: Huang
authors.forename: Ke
authors.initials: K
authors.lastname: Chen
authors.forename: Pinglei
authors.initials: P
authors.lastname: Pan
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yang
authors.forename: Hui-Fang
authors.initials: HF
authors.lastname: Shang
mesh_terms: D000328:Adult; D000368:Aged; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D002681:China / Q000208:ethnology; D015331:Cohort Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D020821:Dystonic Disorders / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C474080:THAP1 protein, human