PRRT2相关发作性疾病家系致病基因的突变研究  

Research on PRRT2 gene mutation and related paroxysmal diseases of family

作　　者：熊永红 胡莉 严树涓 李頔 汪希珂[4] 杨再兰 刘开宇[4] 黄盛文 XIONG Yong-hong;HU Li;YAN Shu-juan;LI Di;WANG Xi-ke;YANG Zai-lan;LIU Kai-yu;HUANG Sheng-wen(School of Laboratory Medicine, Zunyi Medical University, Guizhou, Zunyi 563000, China;Medical College, Guizhou University, Guizhou, Guiyang 550025, China;Department of Clinical Laboratory, Guizhou Provincial People’s Hospital, Guizhou, Guiyang 550002, China;Department of Pediatrics, Guizhou Provincial People’s Hospital, Guizhou, Guiyang 550002, China)

机构地区：[1]遵义医科大学检验系,贵州遵义563000 [2]贵州大学医学院,贵州贵阳550025 [3]贵州省人民医院检验科,贵州贵阳550002 [4]贵州省人民医院儿科,贵州贵阳550002

出　　处：《发育医学电子杂志》2019年第2期136-140,共5页Journal of Developmental Medicine (Electronic Version)

基　　金：贵州省科技计划项目(黔科合平台人才[2016]5670号);贵阳市科技创新平台计划(筑科合同[20161001]35号)

摘　　要：目的鉴定一个富脯氨酸跨膜蛋白2(proline-rich transmembrane protein 2,PRRT2)相关发作性疾病家系的PRRT2基因突变类型,并分析其临床表型特点。方法该家系有3代7人,其中5人(先证者及其母亲、哥哥、舅舅、外婆)有抽搐史。对上述5名有抽搐史的家系成员及先证者的父亲采集外周静脉血,提取全血基因组DNA,进行全外显子测序。根据全外显子测序结果筛选出的致病基因突变位点(位于PRRT2基因第2外显子),采用Sanger测序法对每个家系成员的目标位点进行验证。结果该家系5例患者中,2例符合良性家族性婴幼儿癫痫诊断,1例符合发作性运动诱发性运动障碍诊断,2例符合热性惊厥诊断。5例患者均存在PRRT2基因第2外显子c.649dup C(p.R217Pfs*8)杂合突变,先证者的父亲未发现该突变位点。结论该家系存在PRRT2基因c.649dupC杂合突变,导致PRRT2相关发作性疾病。Objective To identify the mutation type of the proline-rich transmembrane protein 2 (PRRT2)gene in a PRRT2-related paroxysmal diseases family and analyze their clinical features. Methods There were three generations and seven people in this family. Five of them (the proband and her mother, brother, uncle and grandmother) had a history of convulsions. Peripheral blood of the five family members with convulsions history and proband's father were collected, and the genomic DNA of the whole blood was extracted and the whole-exome sequencing (WES) was performed. The pathogentic gene and mutation site (located in the second exon of PRRT2 gene) was screened according to the WES results. The target site of each family member was verified by Sanger sequencing method. Results Among the five patients in this family, two cases were diagnosed with benign familial infantile seizures, one case was paroxysmal kinesigenic dyskinesias and two cases were febrile convulsion. All of the five patients carried a heterozygous mutation of c.649dupC (p.R217Pfs*8) in exon 2 of PRRT2 gene. The father of proband did not find this mutation site. Conclusion Heterozygous mutation of c.649dupC in PRRT2 gene existes in this family, which leads the PRRT2-related paroxysmal disease.

关 键 词：PRRT2 基因 PRRT2 相关发作性疾病 基因突变 良性家族性婴幼儿癫痫 发作性运动诱发性运动障碍 

分 类 号：R725.9[医药卫生—儿科] R440[医药卫生—临床医学]