中国麻风皮肤病杂志 ›› 2026, Vol. 42 ›› Issue (7): 489-493.doi: 10.12144/zgmfskin202607489

• 论著 • 上一篇    下一篇

PNPLA1复合杂合突变致先天性常染色体隐性遗传性鱼鳞病二例

于悦,姚雨杏,吴玮,朱彦聪,周文哲,史建强   

  1. 广东医科大学附属医院,广东湛江，524000
  • 出版日期:2026-07-15 发布日期:2026-06-29

Two cases of autosomal recessive congenital ichthyosis caused by compound heterozygous mutations in PNPLA1 gene

YU Yue, YAO Yuxing, WU Wei, ZHU Yancong, ZHOU Wenzhe, SHI Jianqiang   

  1. Affiliated Hospital of Guangdong Medical University, Zhanjiang 524000, China
  • Online:2026-07-15 Published:2026-06-29

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摘要： 目的：明确二例先天性常染色体隐性遗传性鱼鳞病基因突变位点。方法：收集临床资料，对先证者行皮损组织病理检查，并采集先证者及其父母的外周血行全外显子组捕获和测序，基于二代测序数据进行单核苷酸变异、小片段插入缺失变异和大片段拷贝数变异分析。结果：两例先证者均表现为皮肤淡红斑、褐色多角形鳞屑性斑片，边界清楚，部分上覆白色鳞屑；病理诊断为鱼鳞病；二代测序显示，先证者1为PNPLA1基因c.106C＞T(p.Arg36Trp)（来自父亲）和c.731A＞G(p.Tyr244Cys)（来自母亲）复合杂合变异；先证者2为PNPLA1基因c.1300del(p.Ala434Hisfs*22)（来自父亲）和c.731A＞G(p.Tyr244Cys)（来自母亲）复合杂合变异。结论：本文采用二代测序法检测到PNPLA1基因c.106C＞T和c.731A＞G、c.1300del和c.731A＞G复合杂合变异，扩展了先天性常染色体隐性遗传性鱼鳞病的遗传突变谱及临床表型谱。

关键词: 先天性常染色体隐性遗传性鱼鳞病, 先天性鱼鳞病样红皮病, PNPLA1基因, 复合杂合变异

Abstract: Objective: To confirm the diagnosis of two cases of autosomal recessive congenital ichthyosis. Methods: Clinical data were collected, and lesional skin biopsies were examined histopathologically. Whole-exome sequencing (WES) was performed on peripheral blood DNA from both probands and their parents. Single-nucleotide variants (SNVs), small insertions/deletions (indels), and copy-number variants (CNVs) were analyzed from the next-generation sequencing (NGS) data. Results: Both probands presented with diffuse, faint erythema and brown, polygonal, adherent scales with sharp borders and overlying white desquamation. Skin histopathology was consistent with ichthyosis. NGS revealed that Proband 1 harbored compound heterozygous variants of the harbored compound heterozygous variants of the PNPLA1 gene: c.106C＞T (p.Arg36Trp) inherited from the father and c.731A＞G (p.Tyr244Cys) inherited from the mother. Proband 2 presented compound heterozygous variants of the PNPLA1 gene: c.1300del (p.Ala434Hisfs*22) inherited from the father and c.731A＞G (p.Tyr244Cys) inherited from the mother. Conclusion: We identified two novel PNPLA1 compound heterozygous genotypes in the gene (c.106C＞T/c.731A＞G and c.1300del/c.731A＞G) thereby expanding the mutational and phenotypic spectra of autosomal recessive congenital ichthyosis.

Key words: autosomal recessive congenital ichthyosis, congenital ichthyosiform erythroderma, PNPLA1 gene, compound heterozygous mutations