X连锁隐性鱼鳞病基因型表型分析

Genotype-phenotype analysis of cases with X-linked ichthyosis

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。

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.