| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSC2 | 9 | R375X | c.1123C>T | p.Arg375X |
0/0
| TFC+; N=2 | | One patient homozygous for R375X: early and severe phenotype. Another carried digenic mutations: DSC2 R375X and PKP2 R329fsX351 |
Mutation details
|
| PKP2 | 3 | R329fsX351 | c.987del | p.Ser329ArgfsX23 |
0/0
| TFC+ | | Digenic DSC2 R375X and PKP2 R329fsX351 |
Mutation details
|