5例基因确诊的发作性运动诱发性运动障碍病例研究

目的 筛查PKD患者中PRRT2基因突变.方法 收集9例临床诊断为PKD的患者,其中4例有家族史,抽取静脉血3 mL,标准法提取基因组DNA,Sanger法测PRRT2基因序列.结果 5例患者携带PRRT2基因突变,其中4例家族性PKD携带c.649dupC突变;另1例散发性PKD携带c.133-136delCCAG突变,其无症状的父亲亦携带该突变;其余患者未发现PRRT2基因突变.结论 本研究进一步证实PRRT2为PKD的致病基因,PRRT2突变存在外显不全现象.

Study of five case with paroxysmal kinesigenic dyskinesia diagnosed by genetic detection

Objective To investigate PRRT2 mutations in cases who are clinically diagnosed with PKD. Methods Nine PKD cases including 4 familial cases were recruited. Peripheral blood （3 mL） was drawn after obtaining informed consent and genomic DNA was isolated with standard protocol. Sanger sequencing was performed for screening PRRT2 mutations. Results A total of 5 cases were detected to harbor PRRT2 mutations. Four familial cases carried c. 649dupC mutation, while one spo- radic case and his asymptomatic father carried c. 133-136delCCAG mutation. We did not identified PRRT2 mutations in the re- maining cases. Conclusion Our study further confirmed that PRRT2 is a causative gene of PKD and implied that PRRT2 muta- tion is incomplete penetranced.