ABCB6 was first determined to be the causative gene of DUH by Zhang et al. when genome-wide linkage analysis and exome sequencing was completed; c.1067T>C (p.Leu356Pro), c.508A>G (p.Ser170Gly) and c.1736G>A (p.Gly579Glu) were identified in the DUH family or sporadic cases [4]. Here, SASH1 is linked to dyschromatosis universalis hereditaria.