Clinical Significance

Among the 48 Harlequin Ichthyosis (HI) in whom ABCA12 mutation analysis has been reported, ABCA12 mutation have been identified in all HI families; the ABCA12 mutation detection rate is 100% (48/48) in HI families. Kelsell et al reported that one HI patient in whom ABCA12 mutation was not detected by directed sequencing, however, multiplex PCR (Polymerase Chain Reaction) and oligonucleotide array analysis subsequently revealed the deletion of ‘exon8’ in that patient. In this context harlequin Ichthyosis is thought to be genetically homogeneous for all causal ABCA12 mutation.