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A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes dopa‐responsive dystonia in Chinese Han population
Author(s) -
Hu F.Y.,
Xu Y.M.,
Yu L.H.,
Ma M.Y.,
He X.H.,
Zhou D.
Publication year - 2011
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2010.03082.x
Subject(s) - missense mutation , genetics , dystonia , mutation , gene , medicine , biology , psychiatry
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.