Volume 18, Issue 2 pp. 362-364

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

F.-Y. Hu,

F.-Y. Hu

Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province

Department of Neurology, Renmin Hospital, Yunyang Medical College, Shiyan, Hubei Province, China

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Y.-M. Xu,

Corresponding Author

Y.-M. Xu

Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province

Yan-Ming Xu and Dong Zhou, Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China (tel.: +86 28 85423038; fax: 86 28 85423550; E-mail: [email protected] (Y.-M. Xu); [email protected] (D. Zhou).Search for more papers by this author

L.-H. Yu,

L.-H. Yu

Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province

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M.-Y. Ma,

M.-Y. Ma

Department of Medical Genetics, West China Hospital and State Key Laboratory of Biotherapy, Sichuan University, Chengdu, Sichuan Province, China

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X.-H. He,

X.-H. He

Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province

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D. Zhou,

Corresponding Author

D. Zhou

Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province

F.-Y. Hu,

F.-Y. Hu

Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province

Department of Neurology, Renmin Hospital, Yunyang Medical College, Shiyan, Hubei Province, China

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Y.-M. Xu,

Corresponding Author

Y.-M. Xu

Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province

L.-H. Yu,

L.-H. Yu

Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province

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M.-Y. Ma,

M.-Y. Ma

Department of Medical Genetics, West China Hospital and State Key Laboratory of Biotherapy, Sichuan University, Chengdu, Sichuan Province, China

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X.-H. He,

X.-H. He

Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province

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D. Zhou,

Corresponding Author

D. Zhou

Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province

First published: 17 January 2011

https://doi.org/10.1111/j.1468-1331.2010.03082.x

Citations: 6

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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.

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Volume18, Issue2

February 2011

Pages 362-364

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

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

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