Four Novel Mutations in the GCH1 Gene of Chinese Patients with Dopa-Responsive Dystonia
Four Novel Mutations in the GCH1 Gene of Chinese Patients with Dopa-Responsive Dystonia
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DOI：
10.1002/mds.22646
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发表时间：
2010-04-30
影响因子：
8.6
通讯作者：
Chen, Sheng-Di
中科院分区：
文献类型：
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作者：
Cao, Li;Zheng, Lan;Chen, Sheng-Di
对 4 名患有多巴反应性肌张力障碍 (DRD) 的女性患者进行了三磷酸鸟苷环水解酶 I 基因 (GCH1) 突变检测。 DNA 测序显示存在四种新突变，包括 c.2T>C(M1T)、c.239G>A(S80N)、c.245T>C(L82P) 和 IVS5+3 del AAGT。在 100 名具有相同种族背景带的遗传无关的健康对照中没有发现这四种突变。在所有 3 名儿童期发病的患者中，DRD 均始于腿部，错义突变位于 GCH1 编码区。在成年发病患者中检测到 GCH1 第五外显子-内含子边界的缺失突变。尽管本文提供的数据没有提供足够的证据来建立DRD基因型-表型相关性，但了解DRD患者的临床特征和遗传缺陷非常重要，这将有助于产前诊断、早期诊断、评估预后以及促进左旋多巴的因果治疗。 (C) 2010 Movement Disorder Society
Mutation detection in the guanosine triphosphate cyclohydrolase I gene (GCH1) was performed from 4 female patients with dopa-responsive dystonia (DRD). DNA sequencing revealed the presence of four novel mutations including c.2T>C(M1T), c.239G>A(S80N), c.245T>C(L82P), and IVS5+3 del AAGT. These four mutations were not found in 100 genetically unrelated healthy controls with the same ethnic background band. In all 3 childhood-onset patients, DRD started in the legs, and missense mutations were located in the coding region of GCH1. Deletion mutation in the fifth exon-intron boundary of GCH1 was detected in the adult-onset patient. Although the data presented here do not provide sufficient evidence to establish a genotype-phenotype correlation of DRD, it is important to know the clinic features and genetic defects of DRD patients, which will help prenatal diagnosis, early diagnosis, evaluate the prognosis, and facilitate causal therapy with levodopa. (C) 2010 Movement Disorder Society