| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| PKP2 | 2 | R79X | c.235C>T | p.Arg79X |
0/0
| | | Functional data: reduced connexin43 abundance, correlated with loss of HSP90 expression, no connexin43 and desmoplakin interaction |
Mutation details
|
| PKP2 | 3 | C179fsX190 | c.534_535insCT | p.His179LeufsX12 |
0/0
| | | Functional data: failure to preferentially localize to cell-cell apposition sites; preserved connexin43 and desmoplakin interaction |
Mutation details
|