Copyright
©The Author(s) 2025.
World J Clin Pediatr. Dec 9, 2025; 14(4): 108329
Published online Dec 9, 2025. doi: 10.5409/wjcp.v14.i4.108329
Published online Dec 9, 2025. doi: 10.5409/wjcp.v14.i4.108329
Table 1 Genetic variants identified in patients with arrhythmogenic cardiomyopathy
| Patients | Gene | Variants | ACMG classification | CADD |
| Patient 1 | DSG2 | Сhr18:31519867, rs121913006, NM_001943.5: C.146G>A: p.R49H | P (PP5, PP3, PM1, PM5, PM2) | 26 |
| Patient 2 | DSP | Chr6:7559251, NM_004415.4: C.448C>T: p.R150* | P (PVS1, PP5, PM2) | 37 |
| DSP | Chr6:7580877-7580878, NM_004415.4: C.4687_4688del: p.L1563Efs*63 | P (PVS1, PP5, PM2) | No data |
- Citation: Nikitina E, Kofeynikova O, Zlotina A, Pervunina T, Vasichkina E, Golovkin A, Kalinina O, Kostareva A. Arrhythmogenic cardiomyopathy in children, on the link between injurious mutations and inflammation: Two case reports and review of the literature. World J Clin Pediatr 2025; 14(4): 108329
- URL: https://www.wjgnet.com/2219-2808/full/v14/i4/108329.htm
- DOI: https://dx.doi.org/10.5409/wjcp.v14.i4.108329
