GW28-e0737 Whole Exome Sequencing Identified a Pathogenic Mutation in RYR2 in a Chinese Family with Unexplained Sudden Death

Results We identified a heterozygous mutation in the RYR2 gene at c.490C>T (p.P164S), highly conserved across all species, in three members of this family, while another heterozygous de novo mutation in SCN5A at c.5576G>A p.R1859H was detected in one family member. Importantly, RYR2 p.P164S is associated with the risk of sudden cardiac death, such as in catecholaminergic polymorphic ventricular tachycardia.