摘要
目的:探讨RNF213基因突变致烟雾病(MMD)的发病机制、临床特点、诊断及治疗方法。方法:回顾分析1例MMD病患儿的临床资料,并对RNF213基因突变致MMD进行文献复习。结果:患儿11月龄首次就诊,临床表现为反复无热惊厥,为全面性强直发作;头颅核磁共振弥散加权成像(DWI)序列双侧额叶、顶叶、右侧放射冠、半卵圆中心、分水岭可见多发异常高信号;脑血管造影大脑中动脉狭窄,周围多发侧支血管瘤形成;基因检测显示患儿为RNF213基因c.C12040T>C的杂合子突变,其父亲和母亲在该位点均无变异,为新发突变。人群数据库1KGP、ESP6500、ExAC等均没有发现该位点相关变异。多个生物信息学软件均预测为致病变异。结论:RNF213基因突变可导致MMD,本次发现的基因突变为首次报道,扩充了MMD的基因突变谱。
Objective:To explore the pathogenesis,clinical features,diagnosis and treatment methods of moyamoya disease(MDD)induced by RNF213 gene mutation.Methods:Clinical data of a child with MMD was retrospectively analyzed,and literature of MMD induced by RNF213 gene mutation were reviewed.Results:A 11-month-old child was brought to visit the clinic of our hospital for the first time,the clinical manifestations were recurrent nonfebrile convulsion and generalized tetanic seizure.Head MRI diffusion weighted imaging(DWI)sequence showed multiple abnormal high signals in bilateral frontal lobes,parietal lobes,right corona radiata,semicircular center and watershed.Digital subtraction angiography showed cerebral artery stenosis,and multiple peripheral collateral hemangiomas were formed.Whole exome sequencing showed that the child was a heterozygous mutation of RNF213 gene c.C12040T>C,and neither his father nor his mother had any variation at this site,which was a new mutation.No site-related variation was found in the 1,000 Genome Project(1KGP),Exome Sequencing Project(ESP6500)and Exome Aggregation Consortium(ExAC)databases.Several bioinformatics softwares predicted that the mutation of this site was pathogenic.Conclusion:Mutation of RNF213 gene can lead to MMD.The gene mutations identified in this study are reported for the first time,which expand the gene mutation spectrum of MMD.
作者
索桂海
郑玉芹
吴尤佳
申飞飞
李斌
Suo Guihai;Zheng Yuqin;Wu Youjia;Shen Feifei;Li Bin(Affiliated Hospital of Nantong University,Jiangsu Nantong 226001,China)
出处
《儿科药学杂志》
CAS
2021年第3期17-19,共3页
Journal of Pediatric Pharmacy
基金
江苏省妇幼健康科研项目,编号F201853
南通市科技项目,编号MS22019002
南通市社会民生科技重点项目,编号MS22020002。
