临床儿科杂志 ›› 2020, Vol. 38 ›› Issue (8): 571-.doi: 10.3969/j.issn.1000-3606.2020.08.003

• 遗传代谢性疾病专栏 • 上一篇    下一篇

SYNGAP1 基因变异致癫痫伴认知发育障碍3 例临床分析

田杨, 彭炳蔚, 栗金亮, 侯池, 曾意茹, 廖寅婷, 李小晶, 陈文雄   

  1. 广州市妇女儿童医疗中心(广东广州 510000)
  • 出版日期:2020-08-15 发布日期:2020-08-11
  • 通讯作者: 彭炳蔚 电子信箱:pengbingwei2@foxmail.com

Clinical analysis of epilepsy with cognitive development disorder caused by SYNGAP1 gene mutation in three cases

TIAN Yang, PENG Bingwei, LI Jinliang, HOU Chi, ZENG Yiru, LIAO Yinting, LI Xiaojing, CHEN Wenxiong   

  1. Guangzhou Women and Children’s Medical Center, Guangzhou 510000, Guangdong, China
  • Online:2020-08-15 Published:2020-08-11

摘要:  目的 探讨SYNGAP1基因变异致儿童癫痫伴认知发育障碍的临床特点。方法 收集并分析2017—2019年确诊 的3例SYNGAP1变异相关癫痫患儿的临床资料以及对患儿及父母的全外显子二代测序及Sanger验证结果。 结果 3例患儿中, 男2例、女1例,均为儿童期起病。癫痫发作分别表现为眼睑肌阵挛伴失神,肌阵挛、失张力,局灶性发作。 3例患儿均有认知 异常,其中1例有刻板、攻击行为,缺少眼神交流和社会性交往。患儿父母及家系成员无惊厥及发育障碍。 3例患儿均检测到 SYNGAP1基因存在新发杂合变异,均为常染色体显性遗传,分别为6号外显子c.623delC(p. P208Qfs*15)、1号外显子c.67+1G >A(splicing)、13号外显子c.2158G>A(p.Asp720Asn),其中13号外显子错义变异患儿为局灶性发作。结论 SYNGAP1基 因变异可导致癫痫伴认知发育障碍,癫痫发作具有临床多样性。

关键词: 癫痫; 发育障碍; SYNGAP1基因; 突变

Abstract:  Objective To explore the clinical characteristics of epilepsy with cognitive development disorder caused by SYNGAP1 gene mutation in children. Methods The clinical data of three children with SYNGAP1 mutation revealed by secondgeneration sequencing from 2017 to 2019 were collected and analyzed retrospectively. Results There were three cases (2 boys and 1 girl), all of them had onset in childhood. Their epileptic attacks were eyelid myoclonia with absence, myoclonic atonic and focal seizure, respectively. All of the three children had cognitive abnormalities, one of them had stereotyped, aggressive behavior, lacking of eye contact and social interaction. No convulsion or developmental disorder was found in their parents and other family members. Three children all had de novo heterozygous mutations in SYNGAP1 gene with autosomal dominant inheritance. The variations include c.623delC (p.P208Qfs*15) in exon 6, c.67+1G>A (splicing) in exon 1 and c.2158G>A (p.Asp720Asn) in exon 13, respectively, among which the missense mutation in exon 13 caused focal seizure. Conclusion SYNGAP1 gene mutation can lead to epilepsy with cognitive developmental disorders, and epileptic seizures has clinical diversity.

Key words: epilepsy; developmental disorder; SYNGAP1 gene; mutation