A case of ichthyosis follicularis, atrichia and photophobia syndrome caused by a novel mutation in the MBTPS2 gene
10.35541/cjd.20190263
- VernacularTitle:新发MBTPS2基因突变致毛囊性鱼鳞病、秃发、畏光综合征一例
- Author:
Yunling LI
1
;
Huiwen ZHENG
;
Yin LI
;
Lihua WANG
;
Wei LI
;
Xiaoxuan GUO
;
Chunlan HUANG
;
Sha ZHOU
;
Zhongfa LYU
Author Information
1. 浙江大学医学院附属儿童医院皮肤科
- Keywords:
Ichthyosis;
Alopecia;
Photophobia;
Point mutation;
Ichthyosis follicularis,atrichia and photophobia syndrome
- From:
Chinese Journal of Dermatology
2020;53(2):98-101
- CountryChina
- Language:Chinese
-
Abstract:
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.
