A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis

Table 2

A summary of the types of mutations identified (from the literature review) for each subtype of ARCI (autosomal recessive congenital ichthyosis) and the corresponding effects on the ABCA12 protein. This table shows that the most deleterious changes often result in the HI phenotype, while the mutations which have a less severe effect on the protein often lead to the CIE and LI phenotypes.

Number of patients	Phenotype	Mutations
42	HI	4.8% frameshift insertions
		7.1% exonic deletions
		9.5% in-frame deletions
		9.5% missense
		11.9% splice site
		16.7% frameshift deletions
		40.5% nonsense
11	CIE	72.7% missense
		27.3% nonsense
5	LI	100% missense

HI: Harlequin ichthyosis.
CIE: congenital ichthyosiform erythroderma.
LI: lamellar ichthyosis.