1例STXBP1脑病报道并文献复习  

A Case of STXBP1 Encephalopathy and Literature Review

作　　者：索桂海[1] 戴雨菲 郑玉芹[1] 汤继宏[2] 吴尤佳[1] Suo Guihai;Dai Yufei;Zheng Yuqin;Tang Jihong;Wu Youjia(Affiliated Hospital of Nantong University,Jiangsu Nantong 226001,China;Children’s Hospital of Soochow University,Jiangsu Suzhou 215003,China)

机构地区：[1]南通大学附属医院,江苏南通226001 [2]苏州大学附属儿童医院,江苏苏州215003

出　　处：《儿科药学杂志》2025年第3期30-34,共5页Journal of Pediatric Pharmacy

基　　金：南通市科技局项目,编号JC22022028、JC12022038;江苏省卫生健康委医学科研重点项目,编号ZD2021004;江苏省妇幼保健科研项目,编号F202330;江苏省妇幼保健协会科研项目,编号FYX202125。

摘　　要：目的:探讨并报道1例STXBP1脑病的临床特点、基因突变及诊疗方法。方法:整理并分析1例STXBP1脑病患儿的临床资料,并对STXBP1脑病进行文献复习。结果:患儿,男,17 d龄首次就诊,临床表现为反复癫痫发作伴发育迟滞。全外显子基因测序:STXBP1杂合突变(c.863G>A),导致氨基酸改变p.W288X(无义突变)。经家系验证,患儿父母该位点均无突变,此突变为新发突变。结论:基因检测对于STXBP1脑病的早期诊断、遗传咨询、预后判断和治疗计划具有重要意义,该例突变扩充了STXBP1脑病的基因突变谱。Objective:To explore and report the clinical characteristics,gene mutation,diagnosis and treatment methods of a case of STXBP1 encephalopathy.Methods:Clinical data of a child with STXBP1 encephalopathy were collected and analyzed,and literature review on STXBP1 encephalopathy was conducted.Results:The boy presented for the first time at the age of 17 d with the clinical manifestation of recurrent epileptic seizures with developmental delay.Whole exome sequencing showed that the child was a heterozygous mutation of STXBP1(c.863G>A),resulting in amino acid change p.w288x(nonsense mutation).The family verification analysis showed that there was no variation at this locus in the child of the patients,and the mutation was de novo.Conclusion:Genetic testing plays a significant role in the early diagnosis,genetic counseling,prognosis assessment and development of follow-up treatment regimen of STXBP1 encephalopathy,and the mutation expands the genetic variation spectrum of STXBP1 encephalopathy.

关 键 词：发育性癫痫性脑病 STXBP1 基因突变 

分 类 号：R748[医药卫生—神经病学与精神病学]