Does a gain-of-function enhancer variant near KCNB1 cause familial ST-depression syndrome?
This is the first evidence implicating KCNB1 in human cardiac electrophysiology and arrhythmogenesis through a gain-of-function enhancer variant causing familial ST-depression syndrome.
A gain-of-function enhancer variant creates a hyperactive regulatory locus that interacts with the KCNB1 promoter and causes FSTD. This is the first time that KCNB1 has been implicated in human cardiac electrophysiology and arrhythmogenesis.
Christensen et al. (Tue,) studied this question.