F-Y Hu1,2, Y-M Xu1, L-H Yu1, M-Y Ma3, X-H He1, D Zhou1. 1. Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province. 2. Department of Neurology, Renmin Hospital, Yunyang Medical College, Shiyan, Hubei Province, China. 3. Department of Medical Genetics, West China Hospital and State Key Laboratory of Biotherapy, Sichuan University, Chengdu, Sichuan Province, China.
Abstract
BACKGROUND: Dopa-responsive dystonia has been shown to be caused by a number of different mutations in the GCH1 gene. Up to now, only several genetic studies of Chinese patients with Dopa-responsive dystonia (DRD) have been reported. METHODS: We performed a genetic analysis by amplifying the entire coding region of GCH1 gene and direct sequencing in four DRD families from mainland China. RESULTS: A novel missense mutation, Gly155Ser, has been identified in a sporadic case from a consanguineous marriage family. Furthermore, two known mutations, Met137Arg and Gly203Arg, have also been detected in the other families. CONCLUSIONS: A novel missense mutation in the GCH1 gene can be associated with DRD. Our findings further expanded the mutational spectrum of GCH1 gene associated with DRD.
BACKGROUND:Dopa-responsive dystonia has been shown to be caused by a number of different mutations in the GCH1 gene. Up to now, only several genetic studies of Chinese patients with Dopa-responsive dystonia (DRD) have been reported. METHODS: We performed a genetic analysis by amplifying the entire coding region of GCH1 gene and direct sequencing in four DRD families from mainland China. RESULTS: A novel missense mutation, Gly155Ser, has been identified in a sporadic case from a consanguineous marriage family. Furthermore, two known mutations, Met137Arg and Gly203Arg, have also been detected in the other families. CONCLUSIONS: A novel missense mutation in the GCH1 gene can be associated with DRD. Our findings further expanded the mutational spectrum of GCH1 gene associated with DRD.