title: The spectrum of SCN5A gene mutations in Spanish Brugada syndrome patients.
abstract: Brugada syndrome is characterized by right bundle branch block and ST-segment elevation in the right precordial ECG leads. Familial transmission is frequent and approximately 25% of cases exhibit mutations in the SCN5A gene. We analyzed the sequence of this gene in 25 Spanish patients with Brugada syndrome. In 4 (16%), we found mutations that had not previously been described: three were amino acid changes (i.e. Ala2>Thr, Ala735>Thr and Val1340>Ile) and one was an intron mutation that affected messenger RNA processing (i.e. IVS18-1G>A). These four patients had relatives who were also mutation carriers, several of whom had normal ECGs, even on flecainide challenge. Our study suggests that genetic analysis could be helpful in the presymptomatic diagnosis of Brugada syndrome, but may be less useful for stratifying the risk of adverse events.
authors.affiliation: Genética Molecular, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain.
authors.forename: Mónica
authors.initials: M
authors.lastname: García-Castro
authors.forename: Cristina
authors.initials: C
authors.lastname: García
authors.forename: Julián R
authors.initials: JR
authors.lastname: Reguero
authors.forename: Ana
authors.initials: A
authors.lastname: Miar
authors.forename: José M
authors.initials: JM
authors.lastname: Rubín
authors.forename: Victoria
authors.initials: V
authors.lastname: Alvarez
authors.forename: César
authors.initials: C
authors.lastname: Morís
authors.forename: Eliecer
authors.initials: E
authors.lastname: Coto
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D053840:Brugada Syndrome / Q000453:epidemiology / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000502:physiology*; D062554:NAV1.5 Voltage-Gated Sodium Channel; D010641:Phenotype; D015222:Sodium Channels / Q000235:genetics*; D013030:Spain / Q000453:epidemiology; D055815:Young Adult
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels; D004247:DNA