Table 2.
Genetic data
| Pt. | Gene | c.DNA | AA change | dbSNPID | MAF | ACMG |
|---|---|---|---|---|---|---|
| 1 | PKP2 | c.2447_2448delCC | p.Thr816ArgfsX10 | rs1338371826 | NA | IV Likely Pathogenic |
| 2 | DSP | c.7461_7464delAATT | p.Asp2489MetfsX17 | NA | NA | IV Likely Pathogenic |
| 3 | DSG2 | c.2032delG | p.Gly679AlafsX3 | rs1198405817 | NA | IV Likely Pathogenic |
| 4 | Neg | // | // | // | // | // |
| 5 | PKP2 | c.84del | p.Ser29AlafsX10 | rs1352221104 | NA | V Pathogenic |
| 6 | DSP | c.3889C>T | p.Gln1297X | rs1356287373 | 0.000004069 | V Pathogenic |
| 7 | DSP | c.897C>G | p.Ser299Arg | rs121912992 | 0.000006431 | V Pathogenic |
| 8 | DSP | c.897C>G | p.Ser299Arg | rs121912992 | 0.000006431 | V Pathogenic |
| 9 | DES | c.346A>G | p.Asn116Asp | NA | NA | IV Likely Pathogenic |
| 10 | DSP | c.2821C>T | p.Arg941X | NA | NA | V Pathogenic |
| 11 | Neg | // | // | // | // | // |
| 12 | DSP | c.3475G>T | p.Glu1159X | // | NA | V Pathogenic |
| 13 | Neg | // | // | // | // | // |
| 14 | DSP | c.944G>C | p.Arg315Pro | // | NA | IV Likely Pathogenic |
| 15 | DSG2 | c.1672C>T | p.Gln558X | rs1375012922 | NA | V Pathogenic |
| 16 | DSG2 | c.1672C>T | p.Gln558X | rs1375012922 | NA | V Pathogenic |
| 17 | DSP | c.6323C>A | p.Ser2108X | rs1406108778 | NA | V Pathogenic |
| 18 | PKP2 | c.175C>T | p.Gln59X | NA | NA | V Pathogenic |
| 19 | Neg | // | // | // | // | // |
| 20 | PKP2 | c.175C>T | p.Gln59X | NA | NA | V Pathogenic |
| 21 | PKP2 | c.1027C>T | p.Gln343X | NA | NA | V Pathogenic |
| 22 | Neg | // | // | // | // | // |
| 23 | DSP | c.3889C>T | p.Gln1297X | rs1356287373 | 0.000004069 | V Pathogenic |
DSP, desmoplakin; DSG2, desmoplakin 2; DES, desmin; PKP2, Plakophilin 2; Pt., patient.