Table 1.
Genetic disorders resulting from connexin mutations.
| Connexin | Gene | Disease | References |
|---|---|---|---|
| Cx26 | GJB2 | Deafness, keratitis-icthyosis-deafness syndrome | (43, 44) |
| Cx30 | GJB6 | Non-syndromic hearing loss | (45) |
| Cx30.3 | GJB4 | Erythrokeratoderma variabilis | (46) |
| Cx31 | GJB3 | Erythrokeratoderma variabilis | (47) |
| Cx31.3 | GJC3 | Non-syndromic hearing loss | (48) |
| Cx32 | GJB1 | Charcot-Marie-Tooth neuropathy, X-linked 1 | (49) |
| Cx40 | GJA5 | Atrial fibrillation | (50) |
| Cx43 | GJA1 | Oculodentodigital dysplasia, keratoderma-hypotrichosis-leukonychia totalis syndrome. | (51, 52) |
| Cx45 | GJC1/GJA7 | Atrial arrhythmia | (53) |
| Cx46 | GJA3 | Congenital cataracts | (54) |
| Cx47 | GJC2/GJA12 | Pelizaeus-Merzbacher-like-disease type 1 | (55) |
| Cx50 | GJA8 | Autosomal dominant congenital cataract | (56) |
Connexin mutations result in a variety of different diseases, most notably deafness and skin disorders. Additional abnormalities include congenital cataracts, atrial fibrillation, and neurological dysfunction in the form of demyelinating disease.