| 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。 |
| 关键词: 发育性癫痫性脑病 STXBP1 基因突变 |
| DOI：10.13407/j.cnki.jpp.1672-108X.2025.03.008 |
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| 基金项目: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。 |
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| A Case of STXBP1 Encephalopathy and Literature Review |
| Suo Guihai1 , Dai Yufei1 , Zheng Yuqin1 , Tang Jihong2 , Wu Youjia1 |
| (1. Affiliated Hospital of Nantong University, Jiangsu Nantong 226001, China; 2. Children’s Hospital of Soochow University, Jiangsu Suzhou 215003, China) |
| Abstract: |
| 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. |
| Key words: developmental and epileptic encephalopathy STXBP1 gene mutation |
