PKP2基因家系突变与致心律失常性右室心肌病表型分析1例

Family mutation of PKP2 gene and arrhythmogenic right ventricular cardiomyopathy phenotypic analysis:one case report

1例青年男性患者经相关检查确诊为致心律失常性右室心肌病(ARVC)先证者后,收集先证者家系的临床资料,对先证者及发病家系成员进行全基因组测序,筛选可疑致病基因,并通过Sanger测序法进行验证。对该家系筛查发现先证者及其母亲均为PKP2基因c.517C>T杂合无义突变携带者,余家系成员及对照组均未携带该致病突变。本研究发现PKP2基因家系突变可能导致家族性遗传,其表型分析符合典型ARVC临床特点并且无左室功能受累。

To perform pathogenic gene screening on the family members of a patient with arrhythmogenic right ventricular cardiomyopathy(ARVC)and analyze the correlation between their genotype and phenotype.The study focused on a young male admitted with a diagnosis of ventricular arrhythmia.After diagnosing the patient with ARVC,clinical data from both the patient and family members were collected and analyzed using whole genome sequencing.Suspected pathogenic genes were screened and verified through Sanger sequencing.Relevant genetic screening was conducted on other family members and the control group.The patient and his mother were diagnosed as carriers of the c.517C>T heterozygous nonsense variation of the PKP2 gene mutation.This study indicates that a familial PKP2 gene mutation might lead to familial inheritance.The phenotypic analysis was consistent with the typical clinical features of ARVC without involving left ventricular function.