中国麻风皮肤病杂志 ›› 2026, Vol. 42 ›› Issue (9): 635-638.doi: 10.12144/zgmfskin202609635

• 论著 • 上一篇    下一篇

先天性常染色体隐性遗传性鱼鳞病PNPLA1基因突变检测分析

张诗喻,陈诚,闫国富,何威   

  1. 贵州省贵阳市乌当区贵黔国际医院皮肤科，贵州贵阳，550024
  • 出版日期:2026-09-15 发布日期:2026-09-02

Analysis of PNPLA1 gene mutation in autosomal recessive congenital ichthyosis

ZHANG Shiyu, CHEN Cheng, YAN Guofu, HE Wei   

  1. Dermatology Department of Guiqian International Hospital, Guiyang 550024, China
  • Online:2026-09-15 Published:2026-09-02

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摘要： 目的：明确1例先天性常染色体隐性遗传性鱼鳞病（ARCI）女性患者及其家系中致病基因。方法：提取先证者及其母亲、儿子的外周血DNA进行高通量全外显子测序,并通过Sanger测序验证基因突变。结果：先证者存在PNPLA1基因c.1318C＞Yp.(Arg440Ter)杂合变异，先证者母亲及儿子此基因位点为野生型；先证者、母亲及儿子均检测到PNPLA1基因c.235G＞Ap.(Val79Met)位点杂合变异。ACMG变异评级：PNPLA1基因c.1318C＞Yp.(Arg440Ter)为可能致病变异，PNPLA1基因c.235G＞Ap.(Val79Met)变异为意义不明变异。结论：PNPLA1为该家系的致病基因，且先证者发病由PNPLA1 c.1318C＞Yp.(Arg440Ter)位点变异引起可能性大。

关键词: PNPLA1, 基因突变, 先天性常染色体隐性遗传性鱼鳞病

Abstract: Objective: To identify the pathogenic gene in a female patient with autosomal recessive congenital ichthyosis and her family. Methods: Peripheral blood DNA was extracted from the proband, her mother, and her son for high-throughput whole-exome sequencing, and gene mutations were validated by Sanger sequencing. Results: The proband carries a heterozygous variant c.1318C＞Y p.(Arg440Ter) in the PNPLA1 gene; the proband’s mother and son show wild-type genotype at this locus. A heterozygous variant c.235G＞A p.(Val79Met) in the PNPLA1 gene is detected in the proband, his mother and his son. According to the ACMG variant classification criteria: the PNPLA1 variant c.131C＞T p.(Arg440Ter) is classified as a likely pathogenic variant, while the PNPLA1 variant c.235G＞A p.(Val79Met) is classified as a variant of uncertain significance (VUS). Conclusion: The pathogenic gene of this family is PNPLA1, and the possible cause of the disease in the proband is a mutation at the PNPLA1 c.1318C＞Yp. (Arg440Ter) locus.

Key words: PNPLA1, gene mutation, autosomal recessive congenital ichthyosis