Variants in 12 different genes have been associated with ARCI so far: TGM1 (OMIM 190195), ALOX12B (OMIM 603741), ALOXE3 (OMIM 607206), ABCA12 (OMIM 607800), CYP4F22 (OMIM 611495), NIPAL4 (OMIM 609383), LIPN (OMIM 613924), CERS3 (OMIM 615276), PNPLA1 (OMIM 612121), CASP14 (OMIM 605848), SDR9C7 (OMIM 609769) and SULT2B1 (OMIM 604125). This evidence concerns the gene PNPLA1 and autosomal recessive congenital ichthyosis.