中国麻风皮肤病杂志 ›› 2023, Vol. 39 ›› Issue (10): 719-724.doi: 10.12144/zgmfskin202310719

• 论著 • 上一篇    下一篇

X连锁隐性鱼鳞病基因型表型分析

陆鹏1,陈刚1,崔梦醒2,杨逸飞3,梁骜3,黄鹤群1,梁波1   

  1. 1安徽医科大学第一附属医院皮肤性病科，安徽合肥，230022；2安徽医科大学第一附属医院检验科，安徽合肥，230022；3安徽医科大学第一临床医学院，安徽合肥，230022
  • 出版日期:2023-10-15 发布日期:2023-10-11

Genotype-phenotype analysis of cases with X-linked ichthyosis

LU Peng1, CHEN Gang1, CUI Mengxing2, YANG Yifei3, LIANG Ao3, HUANG Hequn1, LIANG Bo1   

  1. 1 Department of Dermatology and Venereology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; 2 Department of Clinical Laboratory, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; 3 The First Clinical College of Anhui Medical University, Hefei 230022, China
  • Online:2023-10-15 Published:2023-10-11

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摘要： 目的：分析4例X连锁隐性遗传性鱼鳞病（X-linked ichthyosis，XLI）患者的临床表现及遗传变异。方法：从中国汉族人群收集XLI患者，记录临床特征及家系信息，通过全外显子组测序分析患者基因上的单核苷酸变异（SNV）、插入和缺失（INDEL）及拷贝数变异（CNV)。结果：共收集4例XLI患者，均检测到STS基因缺失。其中1例患者同时伴有一个已报道的FLG基因无义突变：c.5368C>T（p.Gln1790Ter），该患者表现类似表皮松解性鱼鳞病症状。结论：XLI临床表现差异较大，全外显子组测序是一种诊断XLI的有效方法。携带FLG基因突变的XLI患者倾向于更重的临床表现。

关键词: 基因诊断, X连锁隐性鱼鳞病, STS基因, FLG基因

Abstract: Objective: To analyze the clinical manifestations and genetic variation of 4 patients with X-linked ichthyosis(XLI). Methods: We collected cases with XLI from Chinese Han population, and recorded clinical characteristics and family information, while analyzing Single Nucleotide Variation (SNV), Insertion and Deletion (INDEL) and Copy Number Variation (CNV) by Whole Exome Sequencing. Results: Complete deletion of STS gene was detected in 4 patients, of whom one patient carried an additional nonsense mutation of FLG gene c.5368C>T (p.Gln1790Ter) and presenting with symptoms similar to epidermolytic ichthyosis. Conclusions: There are diverity among the clinical manifestations of XLI, whole exome sequencing is an effective method for diagnosing XLI. XLI patients with FLG mutations tend to present more severe clinical manifestations.

Key words: gene diagnosis, X-linked ichthyosis, STS gene, FLG gene