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Article

A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis.

Genes - 8 Feb 2023

d'Apolito Maria, Santoro Francesco, Santacroce Rosa, Cordisco Giorgia, Ragnatela Ilaria, D'Arienzo Girolamo, Pellegrino Pier Luigi, Brunetti Natale Daniele, Margaglione Maurizio

Abstract excerpt

BACKGROUND: Brugada syndrome (BrS) is an inherited primary channelopathy syndrome associated to sudden cardiac death. Overall, variants have been identified in eighteen genes encoding for ion channel subunits and seven genes for regulatory proteins. Recently, a missense variant in DLG1 has been found within a BrS phenotype-positive patient. DLG1 encodes for synapse associated protein 97 (SAP97), a protein...

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Identifiers

PMID: 36833354
DOI: 10.3390/genes14020427
PMCID: PMC9957379

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