Table 3 Genetic background of AC
MIM entry | Locus | Disease gene | Gene | Mode of transmission | Author, year [Reference] | Comment |
|---|---|---|---|---|---|---|
Desmosomal genes | ||||||
#611528 | 17q21.2 | Plakoglobin | JUP | AD/AR | McKoy et al. [43], | AR form: Cardiocutaneous syndrome |
#601214 | ||||||
#607450 | 6p24.3 | Desmoplakin | DSP | AD/AR | Rampazzo et al. [46], | AR form: Cardiocutaneous syndrome |
#605676 | ||||||
#609040 | 12p11.21 | Plakophilin- 2 | PKP2 | AD/AR | Gerull et al. [47], | |
#610193 | 18q12.1 | Desmoglein-2 | DSG2 | AD/AR | Pilichou et al. [48], | |
#610476 | 18q12.1 | Desmocollin-2 | DSC2 | AD/AR | Syrris et al. [49], | |
Non-desmosomal genes | ||||||
#600996 | 1q43 | Cardiac Ryanodine Receptor 2 | RYR2 | AD | Tiso et al. [58], | CPVT (AC phenocopy) |
#107970 | 14q24.3 | Transforming growth factor-beta-3 | TGFB3 | AD | Beffagna et al. [57], | Modifier? |
#604400 | 3p25.1 | Transmembrane Protein 43 | TMEM43 | AD | Merner et al. [51], | |
2q35 | Desmin | DES | AD | Van Tintelen et al. [52], | Overlap syndrome (DC and HC phenotype, early conduction disease) | |
6q22.31 | Phospholamban | PLN | AD | Van der Zwaag et al. [53], | ||
2q31.2 | Titin | TTN | AD | Taylor et al. [54], | Overlap syndrome (early conduction disease, AF) | |
1q22 | Lamin A/C | LMNA | AD | Quarta et al. [55], | Overlap syndrome | |
#615616 | 10q21.3 | alpha-T-catenin | CTNNA3 | AD | Van Hengel et al. [56], | |