JPH2基因p.R616C突变与家族性扩张型心肌病的相关性分析  

n p.R616C mutation of JPH2 gene and familial dilated cardiomyopathy

作　　者：梁晴 程维礼 张莱 张郁青 陶琴 LIANG Qing;CHENG Weili;ZHANG Lai;ZHANG Yuqing;TAO Qin(Department of Cardiology,The Affiliated Jiangning Hospital of Nanjing Medical University,Nanjing,211100,China)

机构地区：[1]南京医科大学附属江宁医院心血管内科,南京211100

出　　处：《临床心血管病杂志》2023年第4期303-307,共5页Journal of Clinical Cardiology

基　　金：南京市卫生科技发展专项资金项目(No:YKK20195)。

摘　　要：目的:对1例家族性扩张型心肌病(dilated cardiomyopathy, DCM)家系进行致病基因筛查,分析其基因型与表型的相关性。方法:研究对象为1例DCM先证者及其家系成员,另选取体检中心健康成年人为对照。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。对其他家系成员及对照组进行相关基因筛查。结果:对该家系筛查发现包括先证者在内的5例DCM患者,且基因检测发现均存在JPH2基因的c.1846C>T(p.Arg616Cys)突变,另有1例无临床表型的突变基因携带者。余家系成员及对照组相同位点未见异常。在随访过程中先证者出现恶性心律失常。结论:本研究发现JPH2基因的p.R616C突变可能导致家族性DCM,且该基因突变可能为恶性基因突变。Objective The aim was to screen the pathogenic genes and analyze the genotype-phenotype correlation in a pedigree with dilated cardiomyopathy.Methods The proband with dilated cardiomyopathy(DCM)and his family members were included in this study,while healthy controls from physical examination centers were selected.Clinical data were collected through genetic counseling.The whole genome testing was carried out to screen for suspected pathogenic genes in the proband and affected members.Candidate mutations were further confirmed by Sanger sequencing.Genetic testing was performed on other family members and controls.Results Five patients with DCM were identified in this family,and the same mutation in the JPH2 gene(c.1846C>T/p.Arg616Cys)was found in all of them.There was also one carrier with no obvious clinical phenotype.This variant was absent in other family members and controls.The proband developed malignant arrhythmia during follow-up.Conclusion In this study,we find that JPH2 p.R616C variant probably contributes to familial dilated cardiomyopathy,and the mutation may be malignant.

关 键 词：扩张型心肌病 JPH2 基因突变 

分 类 号：R542.2[医药卫生—心血管疾病]