title: An R1632C variant in the SCN5A gene causing Brugada syndrome.
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.
authors.affiliation: Department of Clinical Analysis, Virgen de la Arrixaca University Hospital, El Palmar, 30120 Murcia, Spain.
authors.forename: Esperanza
authors.initials: E
authors.lastname: García-Molina
authors.affiliation: Department of Clinical Analysis, Virgen de la Arrixaca University Hospital, El Palmar, 30120 Murcia, Spain.
authors.forename: María
authors.initials: M
authors.lastname: Sabater-Molina
authors.affiliation: Department of Cardiology, Virgen de la Arrixaca University Hospital, El Palmar, 30120 Murcia, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Muñoz
authors.affiliation: Department of Clinical Analysis, Virgen de la Arrixaca University Hospital, El Palmar, 30120 Murcia, Spain.
authors.forename: Francisco
authors.initials: F
authors.lastname: Ruiz-Espejo
authors.affiliation: Department of Cardiology, Virgen de la Arrixaca University Hospital, El Palmar, 30120 Murcia, Spain.
authors.forename: Juan R
authors.initials: JR
authors.lastname: Gimeno
mesh_terms: D000328:Adult; D053840:Brugada Syndrome / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004562:Electrocardiography; D005091:Exons; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009206:Myocardium / Q000473:pathology; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D017354:Point Mutation
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human