title: Novel non-sense GCH1 mutation in a South African family diagnosed with dopa-responsive dystonia.
abstract: BACKGROUND
  Dopa-responsive dystonia (DRD), a movement disorder characterized by onset in early childhood and a dramatic response to low doses of levodopa, has been shown to be caused by a number of different mutations in the GCH1 gene.
  
  
  METHODS
  We identified a South African family which presented with DRD in three family members. Polymerase chain reaction (PCR) primers were designed to span all six exons of GCH1 and the PCR products were screened for pathogenic mutations using direct sequencing.
  
  
  RESULTS
  A novel non-sense mutation (c.233delT; p.I78fsX79) was identified in the DRD patients, which would produce a markedly truncated protein of only 78 amino acids. This mutation was also present in a number of asymptomatic family members.
  
  
  CONCLUSIONS
  A novel non-sense mutation in the GCH1 gene can be associated with DRD and reduced penetrance in South African patients.
authors: Division of Molecular Biology and Human Genetics, University of Stellenbosch, Cape Town, South Africa. sbardien@sun.ac.za
authors: S
authors: S
authors: Bardien
authors: R
authors: R
authors: Keyser
authors: D
authors: D
authors: Lombard
authors: M
authors: M
authors: du Plessis
authors: H
authors: H
authors: Human
authors: J
authors: J
authors: Carr
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D018726:Anti-Dyskinesia Agents / Q000627:therapeutic use; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D004421:Dystonia / Q000188:drug therapy / Q000235:genetics*; D005091:Exons; D005190:Family; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013019:South Africa; D055815:Young Adult
chemical_list: D018726:Anti-Dyskinesia Agents; D018389:Codon, Nonsense; D007980:Levodopa