title: Novel sodium channel SCN5A mutations in Brugada syndrome patients from Greece.
abstract: Brugada syndrome (BrS) is an inherited cardiac arrhythmia that may lead to sudden death in patients with structurally normal heart. Mutations in the alpha subunit of the cardiac sodium channel SCN5A gene are found in approximately 20% of cases. We clinically evaluated and genetically screened 7 patients that fully satisfied the clinical diagnostic criteria for the syndrome and 8 patients with a partial clinical diagnosis, for mutations in the SCN5A gene in order to explore the genetic status of BrS patients from Greece for whom there are no published data available. Genetic testing was positive in 3 out of the 7 patients with a definite diagnosis. The probands carried 1 nonsense (p.Trp301X) and 2 missense (p.Ala1949Pro and p.Arg808Cys) mutations. All 3 mutations were novel. Furthermore, genetic testing was negative in all 8 clinically suspected cases. Additionally, 10 single nucleotide polymorphisms (SNPs) were detected, 2 of which are novel. We report on the genetic status of BrS patients of Greek origin amongst whom novel SCN5A mutations were a frequent underlying cause of the syndrome.
authors.forename: Christina-Maria
authors.initials: CM
authors.lastname: Kotta
authors.forename: Aris
authors.initials: A
authors.lastname: Anastasakis
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Gatzoulis
authors.forename: Antonis S
authors.initials: AS
authors.lastname: Manolis
authors.forename: Christodoulos
authors.initials: C
authors.lastname: Stefanadis
mesh_terms: D053840:Brugada Syndrome / Q000175:diagnosis / Q000235:genetics*; D006115:Greece; D006801:Humans; D062554:NAV1.5 Voltage-Gated Sodium Channel; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels