ArticleJRSM cardiovascular disease
Genetic background and clinical phenotype in a Vietnamese cohort with Brugada syndrome: A whole exome sequencing study.
Article in JRSM cardiovascular disease. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objectives: The aim of this study was to report the spectrum of genetic variations and clinical phenotype in a Vietnamese cohort with confirmed Brugada syndrome (BrS) using the whole exome sequencing (WES). Methods: Fifty patients with confirmed BrS were included in this study. Genomic DNA samples were extracted from peripheral blood and conducted for WES. The variants were annotated using ANNOVAR. The variants in the 13 reported genes associated with BrS were filtered, predicted the functional impact using eight computational tools, and classified according to the 2015 ACMG guidelines. Results: Arrhythmic events were documented in one-fifth of the participants. Twenty-four probands were identified to carry 36 variants in 13 genes. Majority of the variants in our study was Conclusion: Our study underscores the primary significance of the
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