Most variants associated with ARVC occur in genes encoding desmosomal proteins [plakophilin 2 (PKP2
), desmocollin 2 (DSC2), desmoglein 2 (DSG2), desmoplakin (DSP), junction plakoglobin (JUP)] (9).
Mutations in PKP2 encoding plakophilin-2 are the most frequent.
In the other two studies, iPSC-derived cardiomyocytes of patients carrying two different mutations in PKP2 were generated.
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These loci harbored two gap junction-related genes, plakophilin 2 (PKP2
) and cortactin-binding protein 2 Nterminal like (CTTNBP2NL), and two neuroendocrine-related genes, SET domain containing 6 (SETD6) and calcium channel, voltage-dependent, beta 2 subunit (CACNB2).
Meanwhile ARVD shows different type of family genetic transmission in which the plakophilin (PKP2
) mutation has been found as a major cause of ARVC/D with prevalence of mutations among unrelated index cases as high as 43% (3, 4).