GRIN2D基因突变致发育性癫痫性脑病一例并文献复习  

Developmental and epileptic encephalopathy caused by GRIN2D gene mutation:a case report and literature review

作　　者：陈铮[1,2] 罗强 田培超 禚志红[1,2] 王怀立 CHEN Zheng;LUO Qiang;TIAN Peichao;ZHUO Zhihong;WANG Huaili(Department of Pediatrics,the First Affiliated Hospital,Zhengzhou University;Henan Provincial Key Laboratory of Childhood Epilepsy and Immunology,Zhengzhou 450052)

机构地区：[1]郑州大学第一附属医院儿科 [2]河南省儿童癫痫与免疫医学重点实验室,郑州450052

出　　处：《郑州大学学报（医学版）》2023年第2期284-287,共4页Journal of Zhengzhou University(Medical Sciences)

基　　金：河南省自然科学基金项目(202300410469);河南省科技攻关省部共建重点项目(SBGJ202102109)。

摘　　要：目的:报道GRIN2D基因突变致发育性癫痫性脑病(DEE)1例,并进行文献复习。方法:收集患儿的临床资料,提取患儿和父母外周血基因组DNA,采用高通量测序技术进行全外显子组基因检测。检索国内外数据库,总结GRIN2D基因突变致DEE病例的资料。结果:本例患儿临床表现为DEE,基因检测发现GRIN2D基因c.2511C>G(p.Ser837Arg)杂合错义突变,该突变尚未见报道。至2022年5月共检索到14例GRIN2D基因突变导致的DEE,涉及11个突变位点,NMDA受体阻滞剂治疗效果不一。结论:GRIN2D基因c.2511C>G(p.Ser837Arg)突变可导致DEE,常规抗癫痫药物治疗效果欠佳;NMDA受体阻滞剂可能成为精准治疗的方向。Aim:To report a case of developmental and epileptic encephalopathy(DEE)caused by GRIN2D gene mutation,and review the relevant literatures.Methods:Clinical data of a girl suspected of DEE was collected.Genomic DNA was extracted from the blood samples of the child and her parents.The whole exon sequencing was detected by high-throughput sequencing.The data of DEE cases caused by GRIN2D gene mutation were summarized by searching domestic and foreign databases.Results:The child presented DEE,with a heterozygous missense mutation of GRIN2D gene:c.2511C>G(p.Ser837Arg),which has not been reported.Till 2022,a total of 14 patients with DEE caused by GRIN2D gene mutation has been reported,involving 11 mutation sites.Outcomes were inconsistent in patients treated with NMDA receptor channel blockers.Conclusion:c.2511C>G(p.Ser837Arg)of GRIN2D gene can lead to DEE,which is refractory to conventional anti-epileptic drugs.NMDA receptor channel blockers maybe the direction of precision medicine.

关 键 词：GRIN2D基因 发育性癫痫性脑病 

分 类 号：R742.1[医药卫生—神经病学与精神病学]