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
方旭 1程维礼 1任重远 1张郁青 1连晓清 1陶琴1
作者信息
- 1. 南京市江宁医院心内科(南京,211199)
- 折叠
摘要
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.
Abstract
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 ge-nome sequencing.Suspected pathogenic genes were screened and verified through Sanger sequencing.Relevant ge-netic 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 con-sistent with the typical clinical features of ARVC without involving left ventricular function.
关键词
致心律失常性心肌病/致心律失常性右室心肌病/PKP2基因/基因表型分析Key words
arrhythmogenic cardiomyopathy/arrhythmogenic right ventricular cardiomyopathy/plakophilin-2/phenotypic analysis引用本文复制引用
基金项目
南京医科大学科技发展基金(NMUB20210156)
出版年
2024
NETL
NSTL
万方数据