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

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  1. 1东南大学附属中大医院儿科,南京 210009
    2东南大学医学院儿科教研室,南京 210009
  • 收稿日期:2021-09-25 接受日期:2022-02-18 出版日期:2022-12-31 发布日期:2022-05-24
  • 通讯作者: 乔立兴

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


先天性常染色体隐性遗传鱼鳞病是一种以出生时为胶棉婴儿、角化过度及皮肤鳞屑等为特点的疾病。我们报道了1例出生时表现为棉胶婴儿,伴有轻度睑外翻、唇外翻和并指的女患儿。全外显子测序显示患儿携带PNPLA1 [NM_001145717;exon1]基因复合杂合突变:c.[56C>A],p.(Ser19X) 和 c.[100G>A],p.(Ala34Thr)。作为一种独特的酰基转移酶,PNPLA1蛋白负责将亚麻油酸从甘油三酯转移到神经酰胺中的ω-羟基脂肪酸,从而生成ω-O-酰基神经酰胺。ω-O-酰基神经酰胺是一种特殊鞘脂类,对保持皮肤屏障功能至关重要。患者携带的复合杂合突变位于PNPLA1基因的patatin核心区域,造成PNPLA1蛋白的截断,从而破坏酶活性,无法合成ω-O-酰基神经酰胺。本文报道的这一例中国儿童PNPLA1基因的复合杂合突变为新发突变。

关键词: 先天性常染色体隐性遗传鱼鳞病, PNPLA1基因, 复合杂合突变


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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