两例发作性运动诱发性运动障碍患者的PRRT2基因变异分析

Identification of two novel PRRT2 gene variants in two children with paroxysmal kinesigenic dyskinesia

目的对两例发作性运动诱发性运动障碍患者进行PRRT2基因变异分析,明确其致病原因。方法采集两例患者及其父母外周血DNA,设计特异性引物覆盖基因全外显子及其侧翼,通过PCR扩增PRRT2基因,再对PCR扩增产物进行测序。结果测序结果显示例1的PRRT2基因第2外显子存在c.282dupA重复变异,例2的PRRT2基因第2外显子存在c.715_716dupCC重复变异。两例患者的母亲均检测到与患者相同的变异。结合该变异的人群频率、遗传模式、文献报道及蛋白功能影响信息,预测这两个变异为未报道过的新致病性变异。结论PRRT2基因第2外显子c.282dupA重复变异和c.715_716dupCC重复变异为患儿的致病原因。

Objective To analyze variants of PRRT2 gene in two children with paroxysmal kinesigenic dyskinesia.Methods Genomic DNA of the two children and their parents was extracted from peripheral venous blood samples.All exons and their flanking regions of the PRRT2 gene were subjected to PCR and Sanger sequencing.Results The two children were found to respectively harbor a c.282dupA and a c.715_716dupCC variant in exon 2 of the PRRT2 gene,which were both inherited from their mothers.Pooling together their frequencies in general population,genetic models,related literature and impact on protein function,the two novel variants were both predicted to be pathogenic.Conclusion The c.282dupA and c.715_716dupCC variants probably underlie the disease in the two children.