ALOXE3基因突变致轻型常染色体隐性先天性鱼鳞病一例  

ALOXE3 gene mutations lead to autosomal recessive congenital ichthyosis with mild manifestation

作　　者：曾琴 卢芳琪 王雨蒙 何伟 曹巧玉 陈付英 王树翠 黄海生 李明 ZENG Qin;LU Fangqi;WANG Yumeng;HE Wei;CAO Qiaoyu;CHEN Fuying;WANG Shucui;HUANG Haisheng;LI Ming(Department of Dermatology,First Affiliated Hospital,Anhui University of Science&Technology,Huainan 232001,China;Departement of Dermatology,The Children's Hospital of Fudan University,Shanghai 201102,China)

机构地区：[1]安徽理工大学第一附属医院皮肤科,安徽淮南232001 [2]复旦大学附属儿科医院皮肤科,上海201102

出　　处：《中国麻风皮肤病杂志》2024年第11期761-764,共4页China Journal of Leprosy and Skin Diseases

基　　金：国家自然科学基金(编号:82073422,82273504)。

摘　　要：目的:检测1例常染色体隐性先天性鱼鳞病家系的基因突变情况。方法:提取患者及其父母、100名健康对照外周血DNA,对患者DNA行高通量测序,确定突变位点,再用Sanger测序法对患者和其父母的DNA进行双向验证。结果:在患者DNA中检测到ALOXE3基因c.1208A>G(p.His403Arg)及c.1131del(p.Ile378Sfs*70)复合杂合突变;母亲检出c.1208A>G(p.His403Arg)杂合变异,父亲检出c.1131del(p.Ile378Sfs*70)杂合变异。在检出的2个突变中,移码突变c.1131del为首次报道的突变。100名健康对照者均未见相同突变。结论:本例患者检测到ALOXE3基因c.1208A>G及c.1131del复合杂合突变,推测错义突变c.1208A>G的存在可能是患者临床表现较轻的原因。新报道的突变(c.1131del)丰富了该病基因突变谱。Objective:To detect genetic mutations in a family with autosomal recessive congenital ichthyosis.Methods:DNA was extracted from the peripheral blood of the patient,his parents and 100 healthy controls.Next-generation high-throughput sequencing was performed to identify mutation sites of the proband's DNA,and which were verified by Sanger sequencing in both the proband and the parents.Results:The compound heterozygous mutations of c.1208A>G(p.His403Arg)and c.1131del(p.Ile378Sfs*70)in the ALOXE3 gene were identified in the patient,the mother was found to have heterozygous variation of c.1208A>G(p.His403Arg),while the father was discovered with heterozygous variation of c.1131del(p.Ile378Sfs*70).The mutation of c.1131del was reported for the first time.None of the 100 healthy controls had the same mutation.Conclusion:Compound heterozygous mutations c.1208A>G and c.1131del in the ALOXE3 gene were identified in a patient of autosomal recessive congenital ichthyosis with mild manifestations.The missense mutation c.1208A>G is speculated to contribute to the milder clinical phenotype in the patient.This newly mutation of c.1131del in the ALOXE3 gene enriches the spectrum of autosomal recessive congenital ichthyosis.

关 键 词：常染色体隐性先天性鱼鳞病 ALOXE3基因 复合杂合突变 

分 类 号：R758.52[医药卫生—皮肤病学与性病学]