Whole exome sequencing identified a novel KCNJ12 mutation in a pedigree with familial dilated cardiomyopathy. Homo sapiens

We identified a deletion mutation (E333del) in cytoplasmic C terminus of ATP-sensitive inward rectifier potassium channel 12 (Kir2.2) coded by KCNJ12 gene in a Chinese family with familial dilated cardiomyopathy, in which the affected members showed heart failure, arrhythmia and sudden death.