一个发作性运动诱发性运动障碍家系的遗传学诊断  

Genetic diagnosis of a family with paroxysmal kinesigenic dyskinesia

作　　者：胡新超 毛澄源[1] 史长河[1] 范丽媛 张槊 胡正威[1] 杨志华[1] 范雨 杨靖[1] 许予明[1] HU Xinchao;MAO Chengyuan;SHI Changhe;FAN Liyuan;ZHANG Shuo;HU Zhengwei;YANG Zhihua;FAN Yu;YANG Jing;XU Yuming(Department of Neurology,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052)

机构地区：[1]郑州大学第一附属医院神经内科,郑州450052

出　　处：《郑州大学学报（医学版）》2020年第2期217-220,共4页Journal of Zhengzhou University(Medical Sciences)

基　　金：国家重点研发计划项目(2017YFA0105000);国家自然科学基金项目(81530037,91849115,81771290,81901300)。

摘　　要：目的:检测一个发作性运动诱发性运动障碍家系的致病突变。方法:采集家系内5例患者(先证者及其母、姨妈和2个表弟),先证者父亲(正常人)和200名正常人外周血并提取基因组DNA。对先证者DNA样本进行目标序列捕获测序,寻找突变位点。对所有患者、先证者父亲和200名正常对照的目标位点进行Sanger测序验证。结果:该家系内所有患者的临床症状均符合单纯型发作性运动诱发性运动障碍的诊断。目标序列捕获测序发现先证者PRRT2基因2号外显子存在c.535 C>T(p.Q179*)无义突变。Sanger测序显示家系内所有患者均携带此突变,家系内正常人未检测到此突变,符合家系内共分离。200名正常人均未检测到此突变。结论:无义突变PRRT2 c.535 C>T(p.Q179*)是该单纯型发作性运动诱发性运动障碍家系的致病基因。Aim:To detect a pathogenic mutation in a family with paroxysmal kinesigenic dyskinesia.Methods:Peripheral blood samples of 5 patients(the proband,his mother,aunt,and two cousins),the proband′s father(healthy subject)and 200 healthy controls were collected and genomic DNA was extracted.Target capture sequencing was performed to identify the mutation.Sanger sequencing was performed on the target site of the 6 family members and 200 healthy controls.Results:The clinical symptoms of all the patients in this family were consistent with the diagnosis of classic paroxysmal kinesigenic dyskinesia.Target capture sequencing identified c.535 C>T(p.Q179*)heterozygous mutation in exon 2 of the proband's PRRT2 gene.Sanger sequencing showed that all the patients but not the healthy family member carried this mutation,which showed genetic co-segregation.This mutation was not detected in 200 healthy individuals.Conclusion:A causative mutation PRRT2 c.535 C>T(p.Q179*)in a family with classic paroxysmal kinesigenic dyskinesia is found.

关 键 词：发作性运动诱发性运动障碍 目标序列捕获测序 PRRT2基因 

分 类 号：R745[医药卫生—神经病学与精神病学]