The relation between gene KCNQ1 and KCNH2 and familial paroxysmal atrioventricular junctional reentrant tachycardia

Objective:To investigate the relation between gene mutations of ion channel gene KCNQ1 and KCNH2 and familial paroxysmal atrioventricular junctional reentrant tachycardia (FPAVJRT). Methods:In a family with FPAVJRT, PCR- DNA direct sequencing were performed to screen the exons and their flanking introns of KCNQ1 and KCNH2 genes for mutations. Results: Within this family, we identified five mutations in KCNQ1 gene , and two of them were located in the area of exons, but they both were nonsense mutations and three mutations were located in the area of introns. Additionally, three mutations were identified in introns of KCNH2 gene. Conclusions: There exist polymorphisms in ion channel gene KCNQ1 and KCNH2, but they may not be what lead to FPAVJRT. A certain gene other than KCNQ1 and KCNH2 may promote FPAVJRT.