【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。更多还原

【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.更多还原