摘要
目的:探讨CSNK2B基因突变的临床表型及遗传学特点。方法:收集1例CSNK2B基因剪切突变致婴儿期全面性癫痫伴精神运动发育落后患儿的临床和遗传学资料,通过千人基因组数据库、美国国家心肺血液研究外显子组测序数据库(ESP6500SI)、外显子组整合数据库(ExAC)、基因组突变频率数据库(GnomAD)及PubMed等检索CSNK2B基因突变相关的临床表型和突变位点。结果:本例患儿为CSNK2B基因剪切位点的杂合新生突变,基因位点c.557+1(IVS6)G>A,该突变国内外均未见报道。CSNK2B基因突变临床表现为婴儿期起病,全面强直阵挛发作,精神运动发育落后,视频脑电图及颅脑磁共振正常,癫痫发作较易控制。结论:CSNK2B基因突变可能导致癫痫发作和精神运动发育落后,基因检测有利于确定病因。
Objective:To probe into the clinical phenotype and genetic characteristics of CSNK2 B gene mutation.Methods:Clinical genetic data of one case with infantile generalized epilepsy complicated with psychomotor retardation induced by CSNK2 B gene mutation were collected.Clinical phenotype and mutation sites related to CSNK2 B gene mutation were retrieved through 1000 Genome Project,ESP6500 SI,the Exome Aggregation Consortium(ExAC),Genome Aggregation Database(GnomAD)and PubMed.Results:This thesis reported a case of heterozygous de nove mutation in CSNK2 B gene,with locus c.557+1(IVS6)G>A,which had not been reported at home and abroad.CSNK2 B gene clinically presented with infantile onset,generalized tonic clonic seizure,psychomotor retardation,normal video EEG and magnetic resonance imaging,and easily controlled epilepsy.Conclusion:CSNK2 B gene mutation may lead to etiology and psychomotor retardation,and gene detection is helpful for patients to determine the etiology.
作者
高佳
蒋铁甲
潘小明
高峰
Gao Jia;Jiang Tiejia;Pan Xiaoming;Gao Feng(Hangzhou Dajiangdong Hospital,Zhejiang Hangzhou 310000,China;The Children’s Hospital,Zhejiang University School of Medicine,Zhejiang Hangzhou 310000,China)
出处
《儿科药学杂志》
CAS
2020年第8期13-16,共4页
Journal of Pediatric Pharmacy
