Whole-Exome Sequencing Identifies a Novel Mutation in a Chinese Family with Atrioventricular Block.

Atrioventricular block (AVB) is a leading cause of sudden cardiac death, and most of AVB cases are presented as autosomal dominant. The electrocardiogram of AVB patients presents an abnormal progressive cardiac conduction disorder between atria and ventricles. () is a nonselective Ca-activated cation channel gene defined as a novel disease-causing gene of AVB. So far, 47 mutations of have been recorded in Human Gene Mutation Database. The aim of this study was to explore the relationship between mutation and pathogenesis of AVB. We investigated a Chinese family with AVB by whole-exome sequencing. An arrhythmia-related gene filtering strategy was used to analyze the disease-causing mutations. Three different bioinformatics programs were used to predict the effects of the mutation result. A novel mutation of was identified (c.2455C>T/p.R819C) and cosegregated in the affected family members. The three bioinformatics programs predicted that the novel mutation may lead to damage. Our study will contribute to expand the spectrum of mutations and supply accurate genetic testing information for further research and the clinical therapy of AVB.