ADAR and dyschromatosis symmetrica hereditaria: Although still very much speculative, the following pathomechanisms of the severe DSH underlying this mutation may be considered: i) The p.Stop1227R mutation predictably results in an open reading frame and a mutant-type (MT) ADAR1 protein containing 1247 amino acid residues, compared with the 1226 amino acid residues of wild-type (WT) protein.