Four separate mutations (p.G77D, p.R194X, p.H283Q, c.*28T>C) in SHOX2 have been associated with early-onset and/or familial atrial fibrillation, in addition to a variant (p.P33R) associated with sinus node dysfunction. Functional impairment of the SHOX2 protein results in arrhythmogenic phenotypes.
SHOX2