遗传性癫痫的临床特征及遗传学分析(附2家系报告)  

Clinical features and genetic analysis of hereditary epilepsy(report of 2 families)

作　　者：杨芳 李苍 李文武 YYANG Fang;LI Cang;LI Wenwu(Department of Neurology,Chuxiong Yi Autonomous Prefecture People's Hospital,Chuxiong 675000,China)

机构地区：[1]云南省楚雄彝族自治州人民医院神经内一科,675000 [2]大理大学临床医学院

出　　处：《临床神经病学杂志》2024年第4期274-277,共4页Journal of Clinical Neurology

基　　金：云南省教育厅科学研究基金项目(2023J0932);云南省楚雄彝族自治州人民医院科学研究基金项目(2021J01,2022YJ02)。

摘　　要：目的 探讨遗传性癫痫两个家系的临床特征及遗传学病因。方法 回顾性分析两个遗传性癫痫家系的临床资料。结果 家系1先证者及母亲均表现为全面强直-阵挛性发作、智力残疾,全外显子组测序(WES)显示先证者及母亲均携带DEPDC5基因NM_001242896 exon2:c.20A>G(p.Y7C)杂合错义变异,美国医学遗传学和基因组学会(ACMG)相关指南评价该变异为可能致病突变。家系2先证者及姐姐表现为发作性四肢抽搐伴意识丧失,母亲有“癫痫”病史,WES显示先证者、母亲、姐姐均携带CACNA1H基因NM_021098 exon7:c.844G>A(p.E282K)杂合错义变异,ACMG相关指南评定该变异为可能致病突变。结论 DEPDC5基因NM_001242896 exon2:c.20A>G(p.Y7C)杂合错义变异、CACNA1H基因NM_021098 exon7:c.844G>A(p.E282K)杂合错义变异可能是全面强直-阵挛性发作的遗传学病因,且均为常染色体显性遗传。Objective To explore the clinical features and genetic etiology of two families with hereditary epilepsy.Methods The Clinical data of two hereditary epilepsy families were retrospectively analyzed.Results The proband and his mother in family 1 showed generalized tonic-clonic seizures and intellectual disability.Whole exome sequencing(WES)showed that both proband and his mother carried a heterozygous missense mutation of DEPDC5 gene NM_001242896 exon2:c.20A>G(p.Y7C).The American College of Medical Genetics and Genomics(ACMG)guidelines evaluated this mutation as a possible pathogenic mutation.The proband and his sister in family 2 showed episodic limb convulsions with loss of consciousness.His mother had a history of“epilepsy”.WES showed that the proband,his mother and his sister carried the heterozygous missense mutation of CACNA1H gene NM_021098 exon7:c.844G>A(p.E282K).ACMG-related guidelines assessed this mutation as a possible pathogenic mutation.Conclusion DEPDC5 gene NM_001242896 exon2:c.20A>G(p.Y7C)heterozygous missense mutation,CACNA1H gene NM_021098 exon7:c.844G>A(p.E282K)heterozygous missense mutation may be the genetic etiology of generalized tonic-clonic seizures,and both are autosomal dominant inheritance.

关 键 词：癫痫 全面强直-阵挛性发作 DEPDC5基因 CACNA1H基因 

分 类 号：R742.1[医药卫生—神经病学与精神病学]