The spectrum of SCN5A gene mutations in Spanish Brugada syndrome patients.
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.
García-Castro
Mónica
M
Genética Molecular, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain.
García
Cristina
C
Reguero
Julián R
JR
Miar
Ana
A
Rubín
José M
JM
Alvarez
Victoria
V
Morís
César
C
Coto
Eliecer
E
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
D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels; D004247:DNA