过度惊吓反应症3例患儿的临床及遗传学分析  

Clinical and genetic analysis of three children with Hyperekplexia

作　　者：韩瑞[1] 张晓莉[1] 贾天明[1] 徐丹[1] 甘玲[1] Han Rui;Zhang Xiaoli;Jia Tianming;Xu Dan;Gan Ling(Department of Pediatrics,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)

机构地区：[1]郑州大学第三附属医院儿内科,郑州450052

出　　处：《中华医学遗传学杂志》2024年第6期720-724,共5页Chinese Journal of Medical Genetics

基　　金：河南省医学科技攻关计划联合共建项目(LHGJ20200452)。

摘　　要：目的:总结3例过度惊吓反应症患儿的临床及遗传学特征。方法:以2018年6月至2020年3月于郑州大学第三附属医院确诊的3例过度惊吓反应症患儿作为研究对象,收集患儿的临床资料,并对其进行基因变异分析。结果:3例患儿均为男性,在意外的听觉或触觉刺激后出现过度惊吓反应以及全身僵直表现,或在受惊吓后频繁摔倒并多次磕伤,点鼻反射阳性,脑电图及影像学均未见明显异常。全外显子组测序发现2例患儿携带GLRB基因,其中位点c.1017_c.1018insAG(p.G340Rfs*14)纯合变异,既往未见报道,1例携带GLRA1基因c.1262T>A(p.IIe421Asn)杂合变异,该位点的遗传模式为未报道的常染色体隐性遗传。3例患儿均经氯硝西泮治疗有效。结论:过度惊吓反应症具有典型的临床表现,早期临床识别及基因检测将有助于诊断。Objective To explore the clinical and genetic characteristics of three children with Hyperekplexia.Methods Three children who were diagnosed with Hyperekplexia at the Third Affiliated Hospital of Zhengzhou University between June 2018 and March 2020 were selected as the study subjects.Clinical data of the three children were collected.All children were subjected to whole exome sequencing.Pathogenicity of candidate variants were verified by Sanger sequencing and bioinformatic analysis.Results The three children were all males,and had presented exaggerated startle reflexes and generalized stiffness in response to unexpected auditory or tactile stimulation,or had frequent traumatic falls following exaggerated startle.All children had shown positive nose-tapping reflex,though EEG and cranial MRI exams were all negative.Whole exome sequencing revealed that two children had harbored homozygous variants of the GLRB gene,of which the c.1017_c.1018insAG(p.G340Rfs*14)was unreported previously.The third child had harbored compound heterozygous variants of the GLRA1 gene,among which the c.1262T>A(p.IIe421Asn)variant showed an unreported autosomal recessive inheritance.All children had responded well to clonazepam treatment.Conclusion Patients with Hyperekplexia have typical clinical manifestations.Early clinical identification and genetic analysis can facilitate their diagnosis.

关 键 词：过度惊吓反应症 僵直 GLRA1基因 GLRB基因 

分 类 号：R725.9[医药卫生—儿科]