GCH1基因剪切突变致多巴反应性肌张力障碍1例

目的探讨多巴反应性肌张力障碍GCH1基因突变方式及遗传特点,从而加深对本病的认识。方法回顾性分析1例多巴反应性肌张力障碍(DRD)患儿临床表现及其家系基因检测资料。结果患儿与其父亲均存在GCH1基因c.542-2A>T的核苷酸杂合突变,属于剪切变异,该病例诊断为DRD,予以美多芭治疗后患儿临床表现显著好转。结论该例患儿及其父亲均为GCH1基因内含子相同部位的剪切突变,对于儿童DRD的诊断,基因检测是重要的检测手段,GCH1基因常见突变主要发生在外显子,但仍需注意内含子部位突变的致病性。

A case of dopa-responsive dystonia caused by splicing mutation of GCH1 gene

Objective To explore the mutation model and genetic characteristics of the GCH1 gene in dopa-responsive dystonia(DRD),to deepen the understanding of this disease.Methods 1 case of DRD were reviewed with clinical manifestations and family genetic testing data.Results Both the child and her father had GCH1 gene c.542-2 A>T nucleotide heterozygous mutation,which belonged to splicing mutations.This case was diagnosed as DRD.The clinical performance of the child was significantly improved after treatment with Madopar.Conclusion In this case,both the child and his father had shear mutations in the same intron of GCH1 gene.Gene detection is an important method for the diagnosis of DRD in children,the common mutations of GCH1 gene mainly occur in the exons,but the pathogenicity of intron mutations remains to be noted.