Analysis of common pathogenic gene mutations of arrhythmogenic right ventricular cardiomyopathy in Yunnan unexplained sudden death cases
10.3760/cma.j.cn231583-20220505-00147
- VernacularTitle:云南不明原因猝死病例致心律失常性右室心肌病常见致病基因突变分析
- Author:
Xue CHENG
1
;
Lin MA
;
Sha MA
;
Yanmei XI
;
Xue TANG
;
Mengyao SUN
;
Yongpeng YANG
;
Mingfang QIN
;
Puping LEI
;
Yuebing WANG
Author Information
1. 大理大学公共卫生学院，大理 671000
- Keywords:
Sudden death, cardiac;
Arrhythmogenic right ventricular cardiomyopathy;
Desmosomal protein genes
- From:
Chinese Journal of Endemiology
2022;41(11):866-870
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze common pathogenic gene mutations of arrhythmogenic right ventricular cardiomyopathy (ARVC) in Yunnan unexplained sudden death (hereinafter referred to as Yunnan sudden death) cases, and explore the etiological relationship between Yunnan sudden death and ARVC.Methods:Four typical Yunnan sudden death affected counties (cities) were selected as investigation sites. Cryopreserved autopsy cardiac cavity blood samples were collected from Yunnan sudden death cases ( n = 3), and peripheral venous blood samples were harvested from their relatives (first, second, third and immediate degree of kinship, n = 67) and control population ( n = 49). The DNA of blood samples was extracted for amplification and sequencing of 97 exons of 5 common ARVC desmosomal protein [desmoplakin (DSP), desmocollin-2 (DSC2), desmoglein-2 (DSG2), plakophilin-2 (PKP2) and junction plakoglobin (JUP)] genes, and genetic lineage of Yunnan sudden death cases was investigated. Results:A total of 17 gene mutation sites were discovered in Yunnan sudden death cases and their relatives, with 6, 5, 4, 1 and 1 in the DSP, DSC2, DSG2, PKP2 and JUP genes, which were not found in the control population. Among them, 9 were newly discovered mutation sites and 8 were reported mutation sites. The DSP gene exon 24 c.8472 G>C, a pure contractual sense mutation, was common in the relatives of 4 cases in the same family surveyed; and one immediate relative carried a deletion mutation at c.2368 - 2370 of exon 15 of DSC2 gene.Conclusion:Yunnan sudden death cases and their relatives carry mutations in the ARVC desmosomal protein DSP, DSC2, DSG2, PKP2, and JUP genes, and the onset of some Yunnan sudden death may be associated with mutations in the ARVC desmosomal protein genes.
