A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes dopa-responsive dystonia in Chinese Han population

作者：Hu, F-Y.; Xu, Y-M.^*; Yu, L-H.; Ma, M-Y.; He, X-H.; Zhou, D.

来源：European Journal of Neurology, 2011, 18(2): 362-364.

DOI：10.1111/j.1468-1331.2010.03082.x

• consanguineous marriage
• dopa-responsive dystonia
• GCH1 gene
• missense mutation

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.

• 出版日期2011-2
• 单位四川大学