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Dopa-responsive dystonia (DRD) is a rare inherited dystonia that responds very well to levodopa treatment. Genetic mutations of GTP cyclohydrolase I ( GCH1 ) or tyrosine hydroxylase ( TH ) are disease-causing mutations in DRD. To evaluate the genotype-phenotype correlations and diagnostic values of  GCH1  and  TH  mutation screening in DRD patients, we carried out a combined study of familial and sporadic cases in Chinese Han subjects. We collected 23 subjects, 8 patients with DRD, 5 unaffected family members, and 10 sporadic cases. We used PCR to sequence all exons and splicing sites of the  GCH1  and  TH  genes. Three novel heterozygous  GCH1  mutations (Tyr75Cys, Ala98Val, and Ile135Thr) were identified in three DRD pedigrees. We failed to identify any  GCH1  or  TH  mutation in two affected sisters. Three symptom-free male  GCH1  mutation carriers were found in two DRD pedigrees. For those DRD siblings that shared the same  GCH1  mutation, symptoms and age of onset varied. In 10 sporadic cases, only two heterozygous  TH  mutations (Ser19Cys and Gly397Arg) were found in two subjects with unknown pathogenicity. No GCH1 and TH mutation was found in 40 unrelated normal Han Chinese controls.  GCH1  mutation is the main etiology of familial DRD. Three novel  GCH1  mutations were identified in this study. Genetic heterogeneity and incomplete penetrance were quite common in DRD patients, especially in sporadic cases. Genetic screening may help establish the diagnosis of DRD; however, a negative  GCH1  and  TH  mutation test would not exclude the diagnosis.

GTP Cyclohydrolase I and Tyrosine Hydroxylase Gene Mutations in Familial and Sporadic Dopa-Responsive Dystonia Patients