title: A new mutation of GCH1 in triplets family with dopa-responsive dystonia.
abstract: BACKGROUND
  Dopa-responsive dystonia (DRD) is associated with mutations of the GCH1. We first report four female siblings with DRD from one family, including three monozygotic triplets patients clinically and genetically.
  
  
  METHODS
  We performed GCH1 analysis by direct sequencing of PCR product amplified with primers designed to cover the entire exons of GCH1 in those four patients and their mother.
  
  
  RESULTS
  In all four patients with DRD, a new frameshift mutation (c.729delG; p.A190fsX191) was identified in the exon 5 of GCH1.
  
  
  CONCLUSIONS
  The frameshift mutation results in truncated GCH1 protein which is suspected to result in loss of function of the catalytic GTP-cyclohydrol domain.
authors.affiliation: School of Health Sciences, Sapporo Medical University, Sapporo, Japan. tati@sapmed.ac.jp
authors.forename: N
authors.initials: N
authors.lastname: Tachi
authors.forename: S
authors.initials: S
authors.lastname: Takahashi
authors.forename: M
authors.initials: M
authors.lastname: Jo
authors.forename: M
authors.initials: M
authors.lastname: Shinoda
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D015259:Dopamine Agents / Q000627:therapeutic use; D020821:Dystonic Disorders / Q000188:drug therapy / Q000235:genetics*; D005190:Family; D005260:Female; D016368:Frameshift Mutation; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014310:Triplets
chemical_list: D015259:Dopamine Agents; D007980:Levodopa; D006136:GTP Cyclohydrolase