X连锁隐性鱼鳞病基因型表型分析  

Genotype-phenotype analysis of cases with X-linked ichthyosis

作　　者：陆鹏[1] 陈刚[1] 崔梦醒 杨逸飞 梁骜 黄鹤群 梁波[1] LU Peng;CHEN Gang;CUI Mengxing;YANG Yifei;LIANG Ao;HUANG Hequn;LIANG Bo(Department of Dermatology and Venereology,The First Affiliated Hospital of Anhui Medical University,Hefei 230022,China;Department of Clinical Laboratory,The First Affiliated Hospital of Anhui Medical University,Hefei 230022,China;The First Clinical College of Anhui Medical University,Hefei 230022,China)

机构地区：[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　　处：《中国麻风皮肤病杂志》2023年第10期719-724,共6页China Journal of Leprosy and Skin Diseases

基　　金：安徽省转化医学研究基金项目(编号:2021zhyx-C31);安徽省教育厅自然科学重点项目(编号:KJ2021A0284);安徽医科大学大学生创新创业校级项目(编号:X202310366016)。

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。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.

关 键 词：基因诊断 X连锁隐性鱼鳞病 STS基因 FLG基因 

分 类 号：R758.52[医药卫生—皮肤病学与性病学]