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A novel pathogenic mutation of PNPLA1 identified in an Autosomal recessive congenital ichthyosis case.

Autosomal recessive congenital ichthyosis (ARCI) is characterized by being born as collodion babies, hyperkeratosis and skin scaling. Here, we described a patient born as a collodion baby with mild ectropion, eclabium and syndactyly. Whole exome sequencing showed a compound heterozygous variation c.[56C>A], p.(Ser19X) and c.[100G>A], p.(Ala34Thr) in PNPLA1 [NM_001145717; exon 1]. The protein encoded by PNPLA1 acts as a unique transacylase that specifically transfers linoleic acid from triglyceride to ω-hydroxy fatty acid in ceramide, thus giving rise to ω-O-acylceramide, a particular class of sphingolipids that is essential for skin barrier function. The variant was located in the patatin core domain of PNPLA1 and resulted in a truncated protein which could disrupt its function. This report highlights a novel compound heterozygous mutation in PNPLA1 identified in a Chinese child.