An R1632C variant in the SCN5A gene causing Brugada syndrome

• Published in: Molecular medicine reports Vol. 13; no. 6; pp. 4677 - 4680
• Main Authors: GARCÍA-MOLINA, ESPERANZA, SABATER-MOLINA, MARÍA, MUÑOZ, CARMEN, RUIZ-ESPEJO, FRANCISCO, GIMENO, JUAN R
• Format: Journal Article
• Language: English
• Published: Greece D.A. Spandidos 01.06.2016; Spandidos Publications; Spandidos Publications UK Ltd
• Subjects: Adult; Amino acids; Arrhythmia; Brugada syndrome; Brugada Syndrome - genetics; Brugada Syndrome - pathology; Development and progression; DNA Mutational Analysis; Electrocardiography; Exons; Familial diseases; Gene mutations; Genes; Genetic aspects; Genetic disorders; genetics; genotype-phenotype correlation; Health aspects; Humans; Male; Mutation; Mutation, Missense; Myocardium - pathology; NAV1.5 Voltage-Gated Sodium Channel - genetics; Patients; Point Mutation; SCN5A; United States > US; Spain
• ISSN: 1791-2997; 1791-3004
• DOI: 10.3892/mmr.2016.5100

Brugada syndrome (BS) is an electrical disease, inherited in an autosomal dominant manner. BS is caused by mutations in up to 13 different genes. SCN5A is the gene most frequently mutated in BS, although this presents an incomplete penetrance. The present case study investigated the SCN5A gene in a family exhibiting BS. Direct sequencing of the SCN5A gene was performed to identify mutations and a familial investigation was performed. A novel variant was identified in the voltage-sensing domain of the SCN5A protein. This familial investigation revealed one novel asymptomatic carrier in the family. Genetic investigations are useful to classify individuals who require more frequent clinical monitoring and to stratify the risk of developing the disease.