Novel Pathogenic Mutation of <i>PNPLA1</i> Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report.

Li Han; Qian Lijuan; Xu Nan; Huang LI; Qiao Li-xing

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Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report.

Author: Li HAN ¹ ; Qian LIJUAN ¹ ; Xu NAN ² ; Huang LI ² ; Qiao LI-XING ¹
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1. Department of Pediatrics, Zhongda Hospital, Southeast University, Nanjing 210009, China.
2. Teaching and Research Section of Pediatrics, Southeast University School of Medicine, Nanjing 210009, China.
Publication Type:Journal Article
Keywords: PNPLA1; autosomal recessive congenital ichthyosis; compound heterozygous variation
MeSH: Humans; Infant, Newborn; Acyltransferases/genetics*; Ceramides/metabolism*; Collodion; Ichthyosis, Lamellar/genetics*; Lipase/metabolism*; Mutation; Phospholipases/genetics*
From: Chinese Medical Sciences Journal 2022;37(4):349-352
CountryChina
Language:English
Abstract: Autosomal recessive congenital ichthyosis (ARCI) is characterized by being born as collodion babies, hyperkeratosis, and skin scaling. We described a collodion baby at birth with mild ectropion, eclabium, and syndactyly. Whole exome sequencing showed a compound heterozygous variant c.[56C>A], p.(Ser19X) and c.[100G>A], p.(Ala34Thr) in the PNPLA1 gene [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 the function of the protein. This case report highlights a novel compound heterozygous mutation in PNPLA1 identified in a Chinese child.