Chinese Medical Sciences Journal ›› 2022, Vol. 37 ›› Issue (4): 349-352.doi: 10.24920/004009

• Case Report • Previous Articles     Next Articles

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

Han Li1, Lijuan Qian1, Nan Xu2, Li Huang2, Lixing Qiao1, *()   

  1. 1Department of Pediatrics, Zhongda Hospital, Southeast University, Nanjing 210009, China
    2Teaching and Research Section of Pediatrics, Southeast University School of Medicine, Nanjing 210009, China
  • Received:2021-09-25 Accepted:2022-02-18 Published:2022-12-31 Online:2022-05-24
  • Contact: Lixing Qiao
In this research the authors identified a novel compound heterozygous mutation c.[56C>A], p.(Ser19X) and c.[100G>A], p.(Ala34Thr) in the patatin core domain of PNPLA1 gene [NM_001145717; exon 1] that could be responsible for autosomal recessive congenital ichthyosis of a Chinese child.

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.

Key words: autosomal recessive congenital ichthyosis, PNPLA1, compound heterozygous variation

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