ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications

Mutations in ABCA12 can cause various autosomal recessive congenital ichthyoses (ARCI) phenotypes: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). The severity of mutations affecting this gene correlateswith the clinical phenotype developed by the patient. Generally, truncating mutations affecting both alleles or deletions in highly conserved areas of the protein cause HI phenotypes. By contrast, missense mutations that impact protein function less severely result in LI or CIE.