Review of known in-frame insertion/deletion mutations in keratin disorders
| Disorder | Mutation | Keratin | Domain | Reference |
|---|---|---|---|---|
| WSN = white sponge naevus; PC = pachyonychia congenita; EPPK = epidermolytic palmoplantar keratoderma; MCD = Meesmann’s corneal dystrophy; EBS = epidermolysis bullosa simplex. | ||||
| WSN | 3 bp insertion | K4 | 1A | Terrinoni et al 37 |
| WSN | 3 bp deletion | K4 | 1A | Rugg et al 38 |
| PC | 3 bp deletion | K6a | 1A | Bowden et al 39 |
| EPPK | 3 bp insertion | K9 | 2B | Coleman et al 30 |
| MCD | 27 bp insertion | K12 | 2B | Current report |
| EBS | 3 bp deletion | K14 | 2B | Chen et al 40 |