Novel Pathogenic Mutation of <italic style="font-style: italic">PNPLA1</italic> Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report

Han Li; Lijuan Qian; Nan Xu; Li Huang; Lixing Qiao

doi:10.24920/004009

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

Chinese Medical Sciences Journal Vol. 37, Issue 4, Pages: 349-352(2022)

Case Report | Updated：2024-04-10

- Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report
- Affiliations：
  
  1. 1Department of Pediatrics, Zhongda Hospital, Southeast University, Nanjing 210009, China
  2. 2Teaching and Research Section of Pediatrics, Southeast University School of Medicine, Nanjing 210009, China
- Author bio：
  
  * 86-25-83262760, E-mail: qiaolixing@yahoo.com.cn
- Funds：
- DOI：10.24920/004009
  CLC：
- Received：25 September 2021，
  
  Accepted：2022-2-18，
  
  Published Online：24 May 2022，
  
  Published：31 December 2022
- Accepted：
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Han Li, Lijuan Qian, Nan Xu, et al. Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report[J]. Chinese medical sciences journal, 2022, 37(4): 349-352.
DOI：

Han Li, Lijuan Qian, Nan Xu, et al. Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report[J]. Chinese medical sciences journal, 2022, 37(4): 349-352. DOI： 10.24920/004009.

摘要

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。

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

p.(Ser19X) and c.[100G

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.

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references

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

DOI：10.24920/004009

摘要

Abstract

关键词

Keywords

references