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- Title
An R1632C variant in the SCN5A gene causing Brugada syndrome.
- Authors
GARCÍA-MOLINA, ESPERANZA; SABATER-MOLINA, MARÍA; MUÑOZ, CARMEN; RUIZ-ESPEJO, FRANCISCO; GIMENO, JUAN R.
- Abstract
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.
- Subjects
BRUGADA syndrome; POLYCYSTIC kidney disease; NUCLEOTIDE sequence; GENETIC mutation; CELL differentiation
- Publication
Molecular Medicine Reports, 2016, Vol 13, Issue 6, p4677
- ISSN
1791-2997
- Publication type
Case Study
- DOI
10.3892/mmr.2016.5100