Figure 3. A supercentenarian with a known pathogenic mutation implicated in cardiomyopathy.

(A) Sanger validation confirmed that one supercentenarian possessed a known pathogenic mutation in a splice acceptor site of Desmocollin-2 (DSC2), a component of the myocardial desmosome. (B) This rare mutation has been reported in 2 independent cases of Arrhythmogenic Right Ventricular Cardiomyopathy and has been shown to cause cryptic splicing and mRNA degradation [54], [55].