4), which encodes the connedn 26 protein. The variant, c85_87de1, removes a highly conserved amino acid within the first transmembrane helix (43). Dideoxy sequencing confirmed it to be a de novo mutation. Dominant, de novo 6,1B2 mutations have been associated with severe neonatal lethal disorders of t

Medical interventions were withdrawn and he died on day 54. At autopsy, suprabasal acan- tholysis was present in the skin and the esophageal mucosa. Dideoxy sequencing of candidate genes KRIS, ESP, JUP, TP63, and KRTI4 exons I, 4, and 6 (the regions harboring most KRTI4 mutations) was negative. Patient