Novel PNPA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis

Abstract

Autosomal recessive congenital ichthyoses (ARCI) are a clinically and genetically heterogeneous group of non-syndromic ichthyoses due to mutations in at least 9 genes, including PNPLA1 (1). PNPLA1 (Patatin-Like Phospholipase Domain-Containing Protein 1) is strongly expressed in the epidermal granular cell layer (1), and has been recently shown to play a crucial role in epidermal ω-O-acylceramide biosynthesis and skin barrier integrity both in mice and humans (2-5). Concomitantly several ARCI families carrying PNPLA1 mutations have been described confirming that most mutations occur in the highly conserved patatin core domain (1, 5-10). We report the identification of two novel missense mutations in PNPLA1 in two Italian sisters affected with ARCI characterized by a cyclic disease course.

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