In total, 5 of the 105 (5%) identified mutations had occurred de novo in the index patient (four LQTS mutations and one CPVT mutation, KCNQ1 p.T169R, KCNH2 p.E95G, KCNH2 p.Q61R, SCN5A p.V411M, and RYR2 p.S2246L, see Table 2). The gene discussed is RYR2; the disease is catecholaminergic polymorphic ventricular tachycardia.