title: Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene.
abstract: We identified three novel mutations of the GTP cyclohydrolase 1 (GCH1) gene in patients with familial dopa-responsive dystonia (DRD), but were unable to identify meaningful sporadic mutations in patients with no obvious family DRD background. To investigate whether GCH1 regional deletions account for the etiology of DRD, we screened for heterozygous exonic deletions in DRD families and in patients with sporadic DRD. Multiple ligation-dependent probe amplification analysis and quantitative real-time polymerase chain reaction amplification was performed in all members of our DRD cohort and in controls to detect exonic deletions in GCH1, tyrosine hydroxylase, and the epsilon-sarcoglycan-encoding (SGCE) genes. Using these techniques, we detected a GCH1 exon 1 heterozygous deletion in 1 of 10 patients with sporadic DRD. Therefore, we concluded that exonic deletion in the GCH1 gene only accounted for the etiology in a small percentage of patients with sporadic DRD in our Han Chinese cohort.
authors.affiliation: Research Center of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
authors.forename: W T
authors.initials: WT
authors.lastname: Shi
authors.affiliation: Research Center of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
authors.forename: C Y
authors.initials: CY
authors.lastname: Cai
authors.affiliation: Research Center of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
authors.forename: M S
authors.initials: MS
authors.lastname: Li
authors.affiliation: Research Center of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
authors.forename: C
authors.initials: C
authors.lastname: Ling
authors.affiliation: Research Center of Basic Medical Sciences, Tianjin Medical University, Tianjin, China liweidong98@tijmu.edu.cn.
authors.forename: W D
authors.initials: WD
authors.lastname: Li
mesh_terms: D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics*; D005091:Exons; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: D006136:GTP Cyclohydrolase