Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.
Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.
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GCHI 基因 5 上游区域的突变导致家族性多巴反应性肌张力障碍。
DOI：
10.1002/mds.23786
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发表时间：
2011
期刊：
影响因子：
--
通讯作者：
Sims,KatherineB
中科院分区：
文献类型：
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作者：
Sharma,Nutan;Armata,IoannaA;Multhaupt-Buell,TrishaJ;Ozelius,LaurieJ;Xin,Winnie;Sims,KatherineB
多巴反应性肌张力障碍（DRD）通常由三磷酸鸟苷（GTP）环化水解酶I基因（GCH 1）中的杂合突变引起[1]。在5 '上游区域，在2例DRD受试者中发现了3种不同的突变[2，3]。一名受试者有2个突变，-39C> T和-132C> T，另一名受试者有一个突变，-22C> T，没有一级亲属的数据[2，3]。我们报告了一个DRD家族的多代人，其中-22 C> T突变与患病状态分离。
Dopa-responsive dystonia (DRD) is commonly caused by heterozygous mutations in the guanosine triphosphate (GTP) cyclohydrolase I gene (GCH1)[1]. In the 5’upstream region, 3 different mutations have been identified in 2 subjects with DRD [2, 3]. One subject had 2 mutations,-39C> T and-132C> T and another had a single mutation,-22 C> T, with no data available on first-degree relatives [2, 3]. We report on multiple generations of one family with DRD, in whom the-22 C> T mutation segregates with affected status.