SCN5A variant type-dependent risk prediction in Brugada syndrome.

ABSTRACT:

Aims

The variant in SCN5A with the loss of function (LOF) effect in the cardiac Na+ channel (Nav1.5) is the definitive cause for Brugada syndrome (BrS), and the functional analysis data revealed that LOF variants are associated with poor prognosis. However, which variant types (e.g. missense or non-missense) affect the prognoses of those variant carriers remain unelucidated.

Methods and results

We defined SCN5A LOF variants as all non-missense and missense variants that produce peak INa < 65% of wild-type previously confirmed by patch-clamp studies. The study population consisted of 76 Japanese BrS patients (74% patients were male and the median age [IQR] at diagnosis was 28 [14-45] years) with LOF type of SCN5A variants: 40 with missense and 36 with non-missense variants. N

SUBMITTER: Aizawa T 

PROVIDER: S-EPMC11844247 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature