Table 1.
Connexin mutations associated with syndromic and non-syndromic skin disease.
| Pathology | Connexin | Gene | Mutation | Clinical Features | Mechanism Linked to Pathology? |
|---|---|---|---|---|---|
| Erythrokeratoderma Variabilis et Progressiva (EKVP3) (OMIM 617525) |
Cx43 | GJA1 | A44V (131C-T); E227D (681A-T); P283L (848C-T); T290N (869C-A) |
Widespread or Localized Keratosis, Palmoplantar Keratoderma | Hemichannel Functionality or Unknown |
| Inflammatory Linear Verrucous Epidermal Nevus (ILVEN) | Cx43 | GJA1 | A44V (131C-T) | Raised Papules along Blaschko’s Lines | Hemichannel Functionality |
| Oculodentodigital Dysplasia (ODDD) (OMIM 164200) |
Cx43 | GJA1 | Y17S (50A-C); S18P (52T-C); G21R (61G-A); G22E (65G-A); V96M (286G-A) 1 |
Craniofacial, Dental, Ocular, and Digital Abnormalities, Syndactyly | Hemichannel Functionality |
| Palmoplantar Keratoderma and Congenital Alopecia-1 (PPKCA1) (OMIM 104100) |
Cx43 | GJA1 | G8V (23G-T) | Keratosis of Palms, Knees, Elbows, and Feet, Alopecia, Leukonychia | Hemichannel Functionality |
| Hypotrichosis with Keratosis Follicular and Hyperostosis | Cx43 | GJA1 | G38E (113G-A) | Leukonychia, Palmoplantar Keratoderma, Hyperostosis, Alopecia | Unknown |
1 There are a total of 73 Cx43 mutations currently associated with ODDD [33].