A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population.
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.
Hu
F-Y
FY
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.|Department of Neurology, Renmin Hospital, Yunyang Medical College, Shiyan, Hubei Province, China.
Xu
Y-M
YM
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.
Yu
L-H
LH
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.
Ma
M-Y
MY
Department of Medical Genetics, West China Hospital and State Key Laboratory of Biotherapy, Sichuan University, Chengdu, Sichuan Province, China.
He
X-H
XH
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.
Zhou
D
D
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D055815:Young Adult
D006136:GTP Cyclohydrolase