Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis

The document is a case report on three unrelated Italian newborns with different forms of congenital ichthyosis (CI), a genetic disorder characterized by dry, scaling skin. Using next-generation sequencing (NGS), the study identified three novel mutations in the ABCA12, KRT1, and ST14 genes, respectively associated with Harlequin ichthyosis (HI), epidermolytic ichthyosis (EI), and autosomal recessive ichthyosis with hypotrichosis (ARIH). These mutations have not been previously reported. The study highlights the genetic diversity of CI and the importance of genetic testing in diagnosing and managing the condition. It also emphasizes the clinical relevance of NGS in guiding patient management.