Table 1.
Gene | Coding Protein | Locus | Reference | |
---|---|---|---|---|
desmosomal mutations | JUP | Junction Plakoglobin | 17q21.2 | [35] |
DSP | Desmoplakin | 6p24.3 | [36] | |
PKP2 | Plakophilin 2 | 12p11.21 | [37] | |
DSG2 | Desmoglein 2 | 18q12.1 | [38,39] | |
DSC2 | Desmocollin 2 | 18q12.1 | [40] | |
non-desmosomal mutations | TMEM43 | Transmembrane protein 43 | 3p25.1 | [41] |
LMNA | Lamin A/C | 1q22 | [42] | |
DES | Desmin | 2q35 | [43] | |
CTNNA3 | Alpha-T-catenin | 10q21.3 | [44] | |
PLN | Phospholamban | 6q22.31 | [45] | |
TGFB3 | Transforming growth factor-3 | 14q24.3 | [27,46] | |
TTN | Titin | 2q31.2 | [47] | |
SCN5A | Sodium voltage gated channel alpha subunit 5 (NaV 1.5) | 3p22.2 | [48] | |
CDH2 | Cadherin C | 18q12.1 | [49] | |
RYR2 | Type 2 ryanodine receptor | 1q42-q43 | [50,51] |