The D50N missense mutation is the most frequently associated pathogenic variant in KID syndrome and has been shown in experimental studies to result in constitutively open hemichannels, leading to increased membrane permeability, oxidative stress, and eventual cell death.[10–13] Only a small subset of GJB2 mutations-including D50N-are associated with syndromic phenotypes characterized by concurrent dermatologic, auditory, and ocular involvement. This evidence concerns the gene GJB2 and KID syndrome.