一个新的 GTP 环水解酶 I (GCH1) 基因突变导致中国汉族人群多巴反应性肌张力障碍。
A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population.
机构信息
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.
Department of Neurology, Renmin Hospital, Yunyang Medical College, Shiyan, Hubei Province, China.
出版信息
Eur J Neurol. 2011 Feb;18(2):362-364. doi: 10.1111/j.1468-1331.2010.03082.x.
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.
背景
多巴反应性肌张力障碍是由 GCH1 基因的许多不同突变引起的。到目前为止，只有少数几项针对中国多巴反应性肌张力障碍（DRD）患者的遗传研究报告。
方法
我们对来自中国大陆的四个 DRD 家系进行了 GCH1 基因全长编码区扩增和直接测序的遗传分析。
结果
在一个来自近亲结婚家庭的散发病例中发现了一个新的错义突变 Gly155Ser。此外，在其他两个家系中还检测到了两个已知的突变 Met137Arg 和 Gly203Arg。
结论
GCH1 基因中的一个新的错义突变与 DRD 有关。我们的发现进一步扩展了与 DRD 相关的 GCH1 基因突变谱。
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