一种致先天性常染色体隐性遗传鱼鳞病的PNPLA1新突变：1例病例报告

doi:10.24920/004009

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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.

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.

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

Han Li, Lijuan Qian, Nan Xu, Li Huang, Lixing Qiao. Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report[J].Chinese Medical Sciences Journal, 2022, 37(4): 349-352.

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

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