Key result
Screening SCN1-4B in SCN5A-negative Brugada syndrome identifies 5 novel variants acting as risk factors.
Why the study?
The additional genetic diagnostic yield of variants in cardiac sodium channel β-subunits in SCN5A negative Brugada syndrome patients was unexplored.
Do variants in cardiac sodium channel β-subunits (SCN1B-SCN4B) contribute to the phenotype of SCN5A-negative Brugada syndrome patients?
Population
74 SCN5A negative Brugada syndrome patients
Comparison
Presence versus absence of variants in SCN1B-SCN4B genes
Design
Observational genetic screening with functional studies
Authors
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Variants in β-subunits may act as risk modifiers in SCN5A-negative Brugada syndrome; leaves open their contribution to penetrance and expressivity.
Observational (n=74)
No
Do variants in cardiac sodium channel β-subunits (SCN1B-SCN4B) contribute to the phenotype of SCN5A-negative Brugada syndrome patients?
Variants in cardiac sodium channel β-subunits may act as risk factors rather than primary causes of Brugada syndrome, potentially explaining reduced penetrance and variable expressivity.
Peeters et al. (2015) conducted an observational in Brugada Syndrome (n=74). SCN1-4B gene variants vs. Wild-type was evaluated on Genetic diagnostic yield of SCN1-4B genes and functional effects of variants. Screening of SCN1-4B genes in 74 SCN5A-negative Brugada syndrome patients identified 5 novel variants, which functional studies suggest act as risk factors rather than the primary monogenic cause.
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