The Spectrum of SCN5A Gene Mutations in Spanish Brugada Syndrome Patients
| Autor: | C. García, José M. Rubín, Mónica García-Castro, Eliecer Coto, Ana Miar, Victoria Alvarez, César Morís, Julián R. Reguero |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Scn5a gene medicine.disease_cause Genetic analysis Sodium Channels NAV1.5 Voltage-Gated Sodium Channel Young Adult Internal medicine medicine Humans cardiovascular diseases Flecainide Gene Aged Brugada Syndrome Sequence (medicine) Brugada syndrome Mutation business.industry DNA General Medicine Middle Aged Right bundle branch block medicine.disease Introns Phenotype Endocrinology Amino Acid Substitution Spain Cardiology Female business medicine.drug |
| Zdroj: | Revista Española de Cardiología (English Edition). 63:856-859 |
| ISSN: | 1885-5857 |
| DOI: | 10.1016/s1885-5857(10)70171-7 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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