- Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Richard, G., Rouan, F., Willoughby, C.E., Brown, N., Chung, P., Ryynänen, M., Jabs, E.W., Bale, S.J., DiGiovanna, J.J., Uitto, J., Russell, L. Am. J. Hum. Genet. (2002)