Gene Variation in Families with Arrhythmogenic Right Ventricular Cardiomyopathy
CHEN Ruifeng
MU Yanchao
DI Hua
MA Zhengbing
Abstract：Objective To analyze and investigate the genes of a family with arrhythmogenic right ventricular cardiomyopathy.Methods The peripheral blood of the proband and their immediate family members was collected,and DNA was extracted for second-generation sequencing.The mutation sites were verified by Sanger sequencing,and the abnormal results were analyzed.Results Whole exome sequencing analysis showed the progenitor had a heterozygous variation of the plakophilin 2(PKP2)gene(NM_001005242.2)c.498C＞G(p.Tyr166*),and a heterozygous variation of potassium voltage-gated channel subfamily A member 5(KCNA5)gene(NM_002234.4)c.1727C＞T(p.Ala576Val).The PKP2 c.498C＞G(p.Tyr166*)variation was from the proband's father,and the KCNA5 c.1727C＞T(p.Ala576Val)variation was from the mother.The PKP2 c.498C＞G(p.Tyr166*)variant was not passed on to the proband's children,and the KCNA5 c.1727C＞T(p.Ala576Val)variant was passed on to the daughter.The structural changes of PKP2 and KCNA5 were induced by bioinformatics analysis.Conclusion PKP2 c.498C＞G(p.Tyr166*)and KCNA5 c.1727C＞T(p.Ala576Val)may be the causes of arrhythmia in the proband.The detection of the combination of heterozygosity of these two genes may enrich the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.
Keywords：arrhythmogenic right ventricular cardiomyopathyPKP2KCNA5clinical feature
Publication Date：2025-07-13
Online Publishing Date：2026-09-12(First online date of this platform, not the publication date of the document)
Pages：5( 2309-2313 )