良性婴儿癫痫PRRT2基因突变及遗传特点研究

Study on PRRT2 gene mutation and genetic characteristics of benign infantile epilepsy

目的:检测PRRT2基因在散发性良性婴儿癫痫(benign infantile epilepsy,BIE)及家族性良性婴儿癫痫(benign familial infantile epilepsy,BFIE)患者中的突变情况及探究其遗传特点。方法:收集在佳木斯市中心医院癫痫中心诊断为良性婴儿癫痫患者,共8例散发性,一个BFIE伴阵发性运动诱发性运动障碍(Paroxysmal Kinesigenic Dyskinesia,PKD)家系共13例,其中4例患病,2例为BFIE,2例为PKD,签署知情同意书,采集外周静脉血5mL,通过直接测序的方法测取PRRT2基因突变情况,选取10例健康者作为对照组。采集病史及家族史,对PRRT2基因突变情况及遗传特点进行分析。结果:8例散发患者PRRT2基因无突变;家系中的4例患者均发现c.640_641ins C,符合常染色体显性遗传的特点。结论:PRRT2基因突变可导致BFIE和PKD,且遗传符合常染色体显性遗传特点;同一突变点c.640_641ins C可导致同一个家族出现BFIE和PKD,具有遗传多样性;PRRT2基因突变可能不是导致散发BIE的主要原因。

Objective:To detect the PRRT2 gene mutation and explore genetic characteristics in patients with sporadic benign infantile epilepsy(BIE) or benign familial infantile epilepsy(BFIE).Methods:8 cases of sporadic BIE diagnosed by Jiamusi Central Hospital were collected.A family of 13 people,2 person had BFIE and 2person had paroxysmal kinesigenic dyskinesia(PKD) were used in this study.All participants were signed a written informed consent.5ml peripheral venous blood was collected from participants.PRRT2 gene mutation sequencing were directly measured.10 healthy subjects were selected as control group.History and family history were collected to analyze the PRRT2 gene mutation and genetic characteristics.Results:There was no PRRT2 gene mutation in 8 sporadic patients.C.640_641ins C was found in all 4 patients of the family.Conclusion:PRRT2 gene mutation can lead to BFIE and PKD,and satisfied the genetic characteristics of autosomal dominant inheritance;the same mutation point c.640_641ins C can lead to BFIE and PKD in a family with genetic diversity;PRRT2 gene mutation may not be the main cause of sporadic BIE.