ALOXE3基因突变致常染色体隐性先天性鱼鳞病一例  

Autosomal recessive congenital ichthyosis caused by mutation of ALOXE3 gene

作　　者：韩春雨 韩建文[1] HAN Chunyu;HAN Jianwen(Affiliated Hospital of Inner Mongolia Medical University,Hohhot 010000,China)

机构地区：[1]内蒙古医科大学附属医院,内蒙古呼和浩特010000

出　　处：《中国麻风皮肤病杂志》2025年第1期9-14,共6页China Journal of Leprosy and Skin Diseases

基　　金：国家自然科学基金(编号:82260619);内蒙古自治区自然科学基金(编号:2022MS08005)。

摘　　要：目的:明确一例常染色体隐性鱼鳞病基因突变及0.5%神经酰胺乳膏治疗效果。方法:收集先证者的临床资料,提取先证者及其亲属外周血DNA,采用序列捕获技术对相关基因进行高通量测序,并对其变异位点进行一代验证。明确诊断后给予先证者外用0.5%神经酰胺乳膏治疗,并随访10个月。结果:先证者皮损组织病理符合鱼鳞病病理改变,全基因组外显子测序及Sanger测序验证发现先证者ALOXE3基因存在复合杂合突变(错义变异c.1208A>G:p.H403R和一个移码变异c.102dup:p.K35Qfs^(*)29)。先证者的母亲(错义变异c.1208A>G:p.H403R)和父亲(移码变异c.102dup:p.K35Qfs^(*)29)分别是单个突变的携带者。给予外用0.5%神经酰胺乳膏治疗10个月,全身皮肤干燥及褐色鳞屑得到明显改善。结论:ALOXE3基因的复合杂合突变可能是该常染色体隐性鱼鳞病患者的病因。0.5%神经酰胺乳膏治疗可取得良好效果。Objective:To determin the mutation of a patient with autosomal recessive ichthyosis and the efficacy of 0.5%ceramide cream.Methods:The clinical data of the proband were collected and DNA was extracted from the peripheral blood of the proband and his relatives,and high-throughput sequencing of relevant genes was performed using sequence capture technology,and the mutation sites were verified for one generation.The proband was treated with topical 0.5%ceramide cream and followed up for 10 months.Results:The histopathology of the proband s skin lesions was consistent with the pathological changes of ichthyosis.Whole-genome exome sequencing and Sanger sequencing confirmed that the proband had compound heterozygous mutations in the ALOXE3 gene(missense variants c.1208A>G:p.H403R and a frameshift variant c.102dup:p.K35Qfs^(*)29).The mother(missense mutation c.1208A>G:p.H403R)and father(frameshift mutation c.102dup:p.K35Qfs^(*)29)of the proband were carriers of a single mutation,respectively.The proband was treated with 0.5%ceramide cream for 10 months.The dry skin and brown scales were significantly improved.Conclusion:The compound heterozygous mutation of ALOXE3 gene may be the cause of this autosomal recessive ichthyosis and 0.5%ceramide cream is effective in treating this disease.

关 键 词：常染色体隐性先天性鱼鳞病 ALOXE3基因 复合杂合突变 神经酰胺乳膏 

分 类 号：R758.52[医药卫生—皮肤病学与性病学]