期刊
JOURNAL OF ELECTROCARDIOLOGY
卷 51, 期 5, 页码 837-843出版社
CHURCHILL LIVINGSTONE INC MEDICAL PUBLISHERS
DOI: 10.1016/j.jelectrocard.2018.06.012
关键词
Arrhythmogenic right ventricular cardiomyopathy; Desmoglein-2; Genetic; Ventricular arrhythmia
资金
- Fund Project of Medical Science and Technology Research in Guangdong [A2018043]
- Foundation of the Key disciplinary construction in The Fifth Affiliated Hospital of Sun Yat-sen University [YYZDXK201201]
- Construction Foundation of the Key Clinical Specialties in Zhuhai [ZHLCZD011]
- Science and Technology Program of Guangdong Province [2014B070705005]
- Science and Technology Program of Guangzhou City [2014Y-00196]
Backgrounds: This study was designed to identify the pathogenic mutations in two Chinese families of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) using the Whole Exome Sequencing (WES). Methods and results: The proband 1 (Family 1,11:1) and proband 2 (Family 2,11:1) underwent the WES of DNA from peripheral blood. The genes susceptible to arrhythmias and cardiomyopathies were analyzed and both the probands carried the same exonic mutation of DSG2 p.F531C (NM_001943, exon 11: c.T1592G). The proband 1 also carried the splicing mutation of DSG2 (NM_001943: exon 4: c.217-1G>T), and proband 2 carried the intronic mutation of DSG2 (NM_001943: exon 6: c.524-3C>G) that potentially influenced the splicing function predicted by Human Splicing Finder. The compound heterozygous mutations of the two probands inherited from their paternal and maternal side, respectively. The carriers with DSG2 p.F531C showed early abnormal electrocardiograms, characterized as the subclinical phenotype of ARVC/D. Conclusions: The DSG2 p.F531C was the main reason for ARVC/D. More severe phenotypes of ARVC/D occurred when coexisting with 217-1G>T or 524-3C>G mutation that potentially affecting the splicing function, as a compound heterozygous recessive inheritance. (C) 2018 Published by Elsevier Inc.
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