title: [A novel mutation in GCH1 gene causes dopa-responsive dystonia].
abstract: OBJECTIVE
  To identify potential mutation of the GCH1 gene in a Chinese family affected with dopa-responsive dystonia.
  
  
  METHODS
  Genomic DNA of patients was extracted from peripheral blood samples. The 6 exons of the GCH1 gene and at least 100 bp of flanking intronic sequences were amplified with PCR. Potential mutations were screened by direct sequencing. Identified mutation was verified with denaturing high performance liquid chromatography (DHPLC) in 100 healthy controls.
  
  
  RESULTS
  All patients were found to be heterozygous for a novel c.597delT (p.Ala200LeufsX5) deletion in the exon 5 of the GCH1 gene. The deletion of T has resulted in formation of a shorter (203 amino acids) truncated non-functional guanosine triphosphate cyclohydrolase I. The same mutation was not found in the 100 controls.
  
  
  CONCLUSIONS
  A novel GCH1 gene frameshifing mutation probably underlies the dopa-responsive dystonia in this Chinese family.
authors.affiliation: Central Laboratory, Southern Medical University Affiliated Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518028, P.R. China. jianshengxie2000@aliyun.com.
authors.forename: Weiqing
authors.initials: W
authors.lastname: Wu
authors.forename: Chunxi
authors.initials: C
authors.lastname: Han
authors.forename: Ying
authors.initials: Y
authors.lastname: Hao
authors.forename: Jiansheng
authors.initials: J
authors.lastname: Xie
authors.forename: Zhiyong
authors.initials: Z
authors.lastname: Xu
authors.forename: Qian
authors.initials: Q
authors.lastname: Geng
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D020821:Dystonic Disorders / Q000201:enzymology* / Q000235:genetics*; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D055815:Young Adult
chemical_list: D006136:GTP Cyclohydrolase