Pathogenesis of a variant in the 5′ untranslated region of ADAR1 in dyschromatosis symmetrica hereditaria

Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis caused by mutations in ADAR1 . In this study, we performed mutation analysis on a family that included typical DSH patients. No mutations were found in any coding regions or exon–intron boundary regions of ADAR1 , but a previously unreported non‐coding heterozygous variant, c.‐60A>G, was found in the 5′ untranslated region (5′UTR) of ADAR1 in the proband and her...