PRRT2基因突变相关良性家族性婴儿癫痫三家系的临床特点及遗传学分析  

Clinical and PRRT2 gene variants analysis of three families with benign familial infantile epilepsy

作　　者：杨志刚[1] 王媛[1] 陈国洪 徐凯丽 马燕丽 贺秋平 崔伟伟[1] 张君[1] Yang Zhigang;Wang Yuan;Chen Guohong;Xu Kaili;Ma Yanli;He Qiuping;Cui Weiwei;Zhang Jun(Department of Neurology,Children′s Hospital Affiliated to Zhengzhou University,Zhengzhou 450000,China)

机构地区：[1]郑州大学附属儿童医院神经内科,450000

出　　处：《中华神经科杂志》2021年第11期1134-1139,共6页Chinese Journal of Neurology

基　　金：国家自然科学基金(81901387);河南省医学科技攻关计划联合共建项目(LHGJ2019090947)。

摘　　要：目的总结良性家族性婴儿癫痫患者家系的临床及基因变异特点。方法收集2018—2019年就诊于郑州大学附属儿童医院神经内科的3个经基因检测确诊的良性家族性婴儿癫痫家系的临床资料,并进行回顾性分析。采用trio全外显子组捕获测序及数据分析对家系中的患儿及父母相关基因进行分析,阳性检测结果用Sanger测序方法进行验证。结果家系中的3例先证者均1岁内起病,主要临床表现为丛集性抽搐发作,发作间期精神反应如常。发作间期视频脑电图均未见明显异常。其中先证者1其父亲婴儿期有频繁抽搐,1岁以后无抽搐发作;先证者2的妈妈、舅舅、姥爷婴儿期均有无热抽搐,约1岁后无抽搐发作;先证者3其母亲幼时有无热抽搐发作,3岁后无抽搐。基因检测结果显示:先证者1 PRRT2基因发现父源c.937G>C杂合变异。先证者2 PRRT2基因发现母源c.1075_c.1076insC杂合变异;先证者3 PRRT2基因发现母源2号外显子杂合缺失。上述3个变异均在人类基因突变数据库中未见报道。结论良性家族性婴儿癫痫是一种婴儿期起病且预后较好的癫痫综合征,患儿表现为丛集性局灶发作或局灶发作继发全面性发作,多在2~3岁后缓解。本文报道的3个变异(c.937G>C、c.1075_c.1076insC、2号外显子缺失)扩大了PRRT2基因变异谱。Objective To investigate the clinical and gene variant characteristics of benign familial infantile epilepsy in generations of three families.Methods The clinical data of the three benign familial infantile epilepsy patients with PRRT2 gene variant who were diagnosed and their family members were collected from Children′s Hospital Affiliated to Zhengzhou University between 2018 and 2019.All coding exons from the patients and their parents were screened by targeted next-generation sequencing,and detected variants were verified by Sanger sequencing.Results In all the patients,a cluster of seizures was observed before one year old,but interictal clinical conditions were normal.The electroencephalograms were all normal in interictal stage.The father of proband 1 presented with convulsion onset at the age of eight months and showed remission before one year old.The grandpa,mother and uncle of proband 2 also presented with convulsion onset in their babyhood of life and showed remission before one year old.The mother of proband 3 presented with convulsion onset in their babyhood of life and showed remission before three years old.Proband 1 carried heterozygous c.937G>C variant in the PRRT2 gene which is inherited from his father.Proband 2 carried c.1075_c.1076insC variant inherited from his mother.A deletion of PRRT2 gene exon 2 was detected in both of proband 3 and her mother.The three variants had not been reported in the Human Gene Mutation Database.Conclusions Benign familial infantile epilepsy is a kind of inherited epilepsy characterized by early onset of seizure in babyhood with better prognosis,a cluster of focal seizures with or without secondary generalization,and cessation of seizure mostly before two or three years of age.The variants c.937G>C,c.1075_c.1076insC and the deletion of exon 2 in the PRRT2 gene have enriched the gene variant spectrum of benign familial infantile epilepsy.

关 键 词：癫痫 正常新生儿 PRRT2基因 遗传变异 

分 类 号：R742.1[医药卫生—神经病学与精神病学]