新发MBTPS2基因突变致毛囊性鱼鳞病、秃发、畏光综合征一例  

A case of ichthyosis follicularis,atrichia and photophobia syndrome caused by a novel mutation in the MBTPS2 gene

作　　者：李云玲[1] 郑惠文 李寅[1] 王丽华 李薇[1] 郭小璇 黄春兰 周沙 吕中法[3] Li Yunling;Zheng Huiwen;Li Yin;Wang Lihua;Li Wei;Guo Xiaoxuan;Huang Chunlan;Zhou Sha;Lyu Zhongfa(Department of Dermatology,The Children's Hospital,Zhejiang University School of Medicine,Hangzhou 310052,China;Department of Dermatology,Hangzhou Daguan Shangtang Community Health Service Center,Hangzhou 310026,China;Department of Dermatology,The Second Affiliated Hospital of Zhejiang University School of Medicine,Hangzh ou 310009,China)

机构地区：[1]浙江大学医学院附属儿童医院皮肤科,杭州310052 [2]杭州大关上塘社区卫生服务中心皮肤科,310026 [3]浙江大学医学院附属第二医院皮肤科,杭州310009

出　　处：《中华皮肤科杂志》2020年第2期98-101,共4页Chinese Journal of Dermatology

摘　　要：本文首次报道1例MBTPS2基因C.1165OT突变致毛囊性鱼鳞病、秃发、畏光综合征。先证者主要临床表现为皮肤干燥、先天性无头发、毛囊角化性丘疹、畏光,伴癫痫,智力、运动发育落后。应用二代测序及一代测序验证显示,先证者和其母亲在MBTPS2基因第9外显子区域存在c.H65C>T(p.pro389Ser)突变。根据患儿临床表现和MBTPS2基因突变遗传学特点,确诊为毛囊性鱼鳞病、秃发、畏光综合征。A case of ichthyosis follicularis,alopecia and photophobia syndrome caused by a novel mutation c.1165C>T in the membrane-bound transcription factor protease site 2(MBTPS2)gene was firstly reported.The proband presented with dry skin,congenital hairlessness,follicular keratotic papules,photophobia,epilepsy,and mental and motor retardation.Next-generation and Sanger sequencing analysis confirmed that the proband and his mother both had a c.1165C>T(p.pro389Ser)mutation in exon 9 of the MBTPS2 gene.According to the clinical manifestations of the patient and genetic characteristics of the MBTPS2 gene mutation,the patient was diagnosed with ichthyosis follicularis,alopecia and photophobia syndrome.

关 键 词：鳞癣 秃发 畏光 点突变 毛囊性鱼鳞病、秃发、畏光综合征 

分 类 号：R758[医药卫生—皮肤病学与性病学]