JUP and arrhythmogenic right ventricular cardiomyopathy: Currently, the genes known to be associated with ARVC are PKP2, DSP, DSG2, DSC2, JUP, TMEM43, DES, and PLN. 5The patient in this case was found to have the PKP2 c.2146-1G>C (splice acceptor) pathogenic gene variant, which alters splicing in codon 10 and results in production of a nonfunctional protein or early stop codon.