CERS3基因变异所致常染色体隐性先天性鱼鳞病一个家系报道  

Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis

作　　者：刘娟 莫然[1,2] 刘依和 黄昕 高萌 杨勇 陈志明 LIU Juan;MO Ran;LIU Yihe;HUANG Xin;GAO Meng;YANG Yong;CHEN Zhiming(Genetic Skin Disease Center,Chinese Academy of Medical Sciences&Peking Union Medical College,Nanjing 210042,China;Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs,Nanjing 210042,China;Department of Dermatology,the First Affiliated Hospital of Nanjing Medical University,Nanjing 210029,China)

机构地区：[1]中国医学科学院北京协和医学院皮肤病医院遗传病中心,南京210042 [2]江苏省皮肤病与性病学重点实验室,南京210042 [3]南京医科大学第一附属医院皮肤科,南京210029

出　　处：《罕见病研究》2023年第2期290-293,共4页Journal of Rare Diseases

基　　金：国家自然科学基金(81903195)。

摘　　要：CERS3突变所致的常染色体隐性先天性鱼鳞病在临床上非常罕见。本文收集了一个家系,对先证者外周血DNA进行遗传性皮肤病靶基因外显子测序,检测出CERS3基因c.746A>G(来自于母亲)和exon12缺失(来自于父亲)复合杂合突变,Sanger测序验证了上述突变存在,基因突变与表型符合共分离原则,该家系的2个突变位点均为首次报道。治疗上予口服阿维A胶囊20 mg qd, 3个月后随访,皮疹明显好转。Autosomal recessive congenital ichthyosis caused by CERS3 mutations is extremely rare in clinical practice.We recently identified a family of autosomal recessive congenital ichthyosis and performed mul⁃tigene exome sequencing for hereditary skin diseases to identify causative genes.Mutation analysis revealed compound heterozygous mutations of c􀆰746A>G(from the mother)and exon12 deletion(from the father)in CERS3 were detected in the proband,which were verified by Sanger sequencing and co⁃segregated with the ichthyosis phenotype in the proband and her parents.These mutations were both reported for the first time.For the treatment,the proband received an oral acitretin capsules of 20 mg once daily.After 3⁃month follow up,the patient􀆳s lesion improved significantly.

关 键 词：常染色体隐性先天性鱼鳞病 CERS3基因 外显子缺失 阿维A 

分 类 号：R758[医药卫生—皮肤病学与性病学]