PRRT2基因突变相关疾病谱的临床特征及遗传学分析  

Clinical characteristics and genetic analysis of PRRT2 gene variants related spectrum of diseases

作　　者：王诗雨 唐蒙蒙 刘辉 张田田 陈润泽 朱小颖 贾宇 张礼萍[1] WANG Shiyu;TANG Mengmeng;LIU Hui;ZHANG Tiantian;CHEN Runze;ZHU Xiaoying;JIA Yu;ZHANG Liping(Xuanwu Hospital,Capital Medical University,Beijing 100053,China)

机构地区：[1]首都医科大学宣武医院,北京100053

出　　处：《中国实用神经疾病杂志》2025年第1期1-6,共6页Chinese Journal of Practical Nervous Diseases

基　　金：国家支持省级重大疾病医疗服务与保障能力提升项目(2019);国家自然科学基金项目(编号:82401705)。

摘　　要：目的回顾性分析总结10例PRRT2基因突变相关疾病谱患者的临床特点及遗传学特征。方法收集2020-07—2022-08就诊于首都医科大学宣武医院儿科的10例PRRT2基因相关癫痫患儿的临床特征、脑电图、头颅磁共振检查、基因特征及治疗结果,回顾性分析其特征。结果10例患儿均提示PRRT2基因杂合突变,其中3例为片段缺失,5例为移码突变,1例为剪接突变。10例患者中男5例,女5例,起病年龄4个月~10岁,其中7例诊断为自限性家族性婴儿癫痫(SFIE),1例诊断为发作性运动诱发性运动障碍(PKD),2例诊断为伴婴儿惊厥的发作性运动诱发性运动障碍(IC/PKD);5例存在PRRT2基因突变相关疾病家族史。7例口服奥卡西平治疗后发作控制,3例口服左乙拉西坦治疗后发作控制。结论PKD、SFIE及IC/PKD是一组与PRRT2基因突变相关的疾病谱,c.649dupC基因突变位点是热点突变位点。对于高度考虑SFIE、PKD及IC/PKD的患者,如全外显子测序未发现异常基因,需进一步行内含子及染色体微缺失/微重复检测,达到早期诊断及治疗的目的。Objective To summarize the clinical and genetic characteristics of 10 patients with PRRT2 gene variants related spectrum of diseases.Methods The clinical manifestations,electroencephalogram(EEG),head magnetic resonance image(MRI),gene variation and treatment of 10 children with PRRT2 gene-related diseases admitted to the pediatric of Xuanwu Hospital,Capital Medical University from July 2020 to August 2022 were retrospectively analyzed.Results Ten patients with heterozygous PRRT2 gene variants were enrolled for this study,3 patients were large fragment deletion,5 patients were frame-shift variants,1 patent was splicing variants,with 5 males and 5 females,the onset age from 4 months to 10 years.Seven patients were diagnosed with SFIE,1 patient was diagnosed with PKD,2 patients were diagnosed with IC/PKD.Additionally,5 patients had a family history of PRRT2 gene variants related diseases.All patients achieved seizure free with the use of a single anti-seizure medicine(ASM).Seven patients were treated with oxcarbazepine,while 3 patients were treated with levetiracetam.Conclusion PKD,SFIE and IC/PKD were evolving spectrum associated with PRRT2 gene variants,c.649dupC was the most common variant.It was recommended that for patients highly suspected of having SFIE,PKD and IC/PKD,further detection of introns and chromosomal microdeletion/microduplication should be considered if no abnormal genes are found through whole exome sequencing,to achieve early diagnosis and treatment.

关 键 词：富含脯氨酸的跨膜蛋白2 PRRT2基因突变相关疾病谱 发作性运动诱发性运动障碍 自限性家族性婴儿癫痫 伴婴儿惊厥的发作性运动诱发性运动障碍 临床特点 遗传学特征 

分 类 号：R596.2[医药卫生—内科学]