Table 1.
Genodermatoses demonstrating revertant mosaicism
| Disorder | Affected gene | Mutation(s) | Mechanism of Reversion | Reference |
|---|---|---|---|---|
| JEB | COL17A1 | Compound heterozygous c.3781C>T and c.1706delA | Gene conversion correcting c.1706delA | [10] |
| JEB | COL17A1 | Homozygous c.4003delTC | Framecorrecting c.4080insGG | [18] |
| EBS | KRT14 | Homozygous c.1842-2A>C splice-site | Second-site mutation c.1844T>G, c.1845del6 | [34] |
| EBS | KRT14 | Heterozygous c.373C>T | Second-site mutation c.242insG | [36] |
| JEB | COL17A1 | Compound heterozygous c.3781C>T, and c.4424insC | Second-site mutation c.4463-1G>A (middle finger), and back mutation c.3781T>C (arm) | [32] |
| JEB | COL17A1 | Compound heterozygous c.3781C>T, and c.1706delA | Second-site mutation c.3782G>C (ankle), and gene conversion of c.3781C>T (arm) | [32] |
| JEB | LAMB3 | Compound heterozygous c.628G>A, and c.1903C>T | Second-site mutations c.596G>C (lower leg), c.628+42G>A (lower leg) | [33] |
| JEB | LAMB3 | Homozygous c.628G>A | c.565-3T>C (arm), c.619A>C (shoulder), c.629-1G>A (arm) | [33] |
| RDEB | COL7A1 | Compound heterozygous c.1732C>T, and c.7786delG | Intragenic crossover | [37] |
| RDEB | COL7A1 | Homozygous c.6527insC | Second-site c.6528delT | [20] |
| IWC | KRT10 | Heterozygous c.1374-2delA | Mitotic recombination | [21] |
| IWC | KRT10 | Heterozygous c.1450insC | Mitotic recombination | [21] |
| IWC | KRT10 | Heterozygous c.1369G>T | Mitotic recombination | [21] |
| IWC | KRT10 | Heterozygous c.1560delCG | Mitotic recombination | [21] |
| IWC | KRT10 | Heterozygous c.1373+1G>A | Mitotic recombination | [21] |
| IWC | KRT10 | Heterozygous c.1374-1G>A | Mitotic recombination | [21] |
| IWC | KRT10 | Heterozygous c.1374-1G>A | Mitotic recombination | [21] |
| Dyskeratosis congenita | TERC | Heterozygous c.54_57del | Mitotic recombination | [75] |
| Dyskeratosis congenita | TERC | Heterozygous c.54_57del | Mitotic recombination | [75] |
| Dyskeratosis congenita | TERC | Heterozygous c.54_57del | Mitotic recombination | [75] |
| Dyskeratosis congenita | TERC | Heterozygous c.54_57del | Mitotic recombination | [75] |
| Dyskeratosis congenita | TERC | Heterozygous c.110_113del | Mitotic recombination | [75] |
| Dyskeratosis congenita | TERC | Heterozygous c.95_96del | Mitotic recombination | [75] |
| RDEB | COL7A1 | Homozygous c.6508C>T | Second-site mutation c.6510G>T | [76] |
| IWC | KRT10 | Heterozygous c.1546_1551delinsT | Mitotic recombination | [77] |
| Kindler Syndrome | FERMT1 | Homozygous c.456dupA | Mitotic recombination and slipped mispairing | [39] |
| Kindler Syndrome | FERMT1 | Homozygous c.676dupC | Mitotic recombination and slipped mispairing | [39] |
| Kindler Syndrome | FERMT1 | Homozygous c.676dupC | Mitotic recombination and slipped mispairing | [39] |
| Kindler Syndrome | FERMT1 | Homozygous c.676dupC | Mitotic recombination and slipped mispairing | [39] |
| Kindler Syndrome | FERMT1 | Homozygous c.676dupC | Mitotic recombination and slipped mispairing | [39] |
| Kindler Syndrome | FERMT1 | Compound heterozygous c.676dupC, c.1677G>A | Mitotic recombination and slipped mispairing | [39] |
| Kindler Syndrome | FERMT1 | Homozygous c.676dupC | RNA editing | [40] |
| RDEB | COL7A1 | Compound heterozygous c.3840delC, c.6751-2A>G | Exon skipping | [74] |
| IWC | KRT1 | Heterozygous c.1865_1866insG | Mitotic recombination | [22] |
| IWC | KRT10 | Heterozygous c.1373delG | Mitotic recombination | [23] |
| IWC | KRT1 | Heterozygous c.1758_1759insT | Mitotic recombination | [46] |
JEB, junctional epidermolysis bullosa; RDEB, recessive dystrophic epidermolysis bullosa; IWC, ichthyosis with confetti