Novel variants in ABCA12 cause erythrokeratodermia variabilis.

Abstract

We present a patient clinically diagnosed with erythrokeratodermia variabilis harbored compound heterozygous variants in the ABCA12 gene, including an unreported c.3653A>G variant and c.7247C>T, both of which were predicted to be pathogenic. This finding provide evidence that ABCA12 pathogenic variants were associated with recessive erythrokeratodermia variabilis, an otherwise dominant disorder. This case highlighted the clinical diversity of ABCA12 variants and the genetic heterogeneity underlying the erythrokeratodermia variabilis, which is significant for genetic counseling and prenatal diagnosis.