Key result
A novel missense variant, p.R1632C in the SCN5A gene, was identified in a family with Brugada syndrome, revealing one symptomatic index case and one asymptomatic carrier.
Case Report (n=3)
No
Identification of a novel SCN5A variant (R1632C) in a family with Brugada syndrome highlights the utility of genetic screening for identifying asymptomatic carriers and risk stratification.
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Novel SCN5A variant in BS family requires validation before any clinical use; leaves open pathogenicity and screening implications.
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.
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García-Molina et al. (2016) conducted a case report in Brugada syndrome (n=3). SCN5A p.R1632C variant vs. Unaffected family members was evaluated on Identification and pathogenicity prediction of SCN5A mutations. A novel missense variant, p.R1632C in the SCN5A gene, was identified in a family with Brugada syndrome, revealing one symptomatic index case and one asymptomatic carrier.
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