title: A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population.
abstract: BACKGROUND
  Dopa-responsive dystonia has been shown to be caused by a number of different mutations in the GCH1 gene. Up to now, only several genetic studies of Chinese patients with Dopa-responsive dystonia (DRD) have been reported.
  
  
  METHODS
  We performed a genetic analysis by amplifying the entire coding region of GCH1 gene and direct sequencing in four DRD families from mainland China.
  
  
  RESULTS
  A novel missense mutation, Gly155Ser, has been identified in a sporadic case from a consanguineous marriage family. Furthermore, two known mutations, Met137Arg and Gly203Arg, have also been detected in the other families.
  
  
  CONCLUSIONS
  A novel missense mutation in the GCH1 gene can be associated with DRD. Our findings further expanded the mutational spectrum of GCH1 gene associated with DRD.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.|Department of Neurology, Renmin Hospital, Yunyang Medical College, Shiyan, Hubei Province, China.
authors.forename: F-Y
authors.initials: FY
authors.lastname: Hu
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.
authors.forename: Y-M
authors.initials: YM
authors.lastname: Xu
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.
authors.forename: L-H
authors.initials: LH
authors.lastname: Yu
authors.affiliation: Department of Medical Genetics, West China Hospital and State Key Laboratory of Biotherapy, Sichuan University, Chengdu, Sichuan Province, China.
authors.forename: M-Y
authors.initials: MY
authors.lastname: Ma
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.
authors.forename: X-H
authors.initials: XH
authors.lastname: He
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.
authors.forename: D
authors.initials: D
authors.lastname: Zhou
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D055815:Young Adult
chemical_list: D006136:GTP Cyclohydrolase