角膜炎、鱼鳞病、耳聋综合征患儿的基因检测  

Mutation analysis for the diagnosis of keratitis-ichthyosis-deafness syndrome

作　　者：张洁[1] 林志淼[1] 陈荃[1] 李名扬[1] 林元珠[2] 汪慧君[1] 李若瑜[1] 杨勇[1] 

机构地区：[1]北京大学第一医院皮肤科,北京100034 [2]河北医科大学第四医院皮肤科,河北石家庄050311

出　　处：《临床皮肤科杂志》2013年第5期267-269,共3页Journal of Clinical Dermatology

基　　金：国家自然科学基金(81071289)资助项目

摘　　要：目的:检测2例表现为慢性皮肤黏膜念珠菌病并发角膜炎、鱼鳞病、耳聋综合征患儿的GJB2基因,明确该病诊断。方法:收集患儿资料,提取患儿及其父母外周血DNA,采用PCR扩增GJB2基因编码区的全部外显子及侧翼序列,DNA直接测序,明确突变位点。结果:例1的GJB2基因2号外显子发生c.C50T杂合突变,导致17位氨基酸由丝氨酸变成苯丙氨酸(p.S17F);例2的GJB2基因2号外显子发生c.G148A杂合突变,导致50位氨基酸由天冬氨酸变成天冬酰胺(p.D50N)。2例患儿的父母及100例健康对照者未发现相应突变。结论:两例患儿经基因检测确诊为角膜炎、鱼鳞病、耳聋综合征,该病可并发严重的真菌感染从而导致诊断困难,基因检测方法有助于明确疾病诊断及指导治疗。Objective： To determine the GJB2 gene mutations in two patients with chronic mucocutaneous candidiasis accom- panied with hyperkeratosis of the skin, keratitis and deafness. Methods： All exons of GJB2 gene were amplified by PCR and DNA sequencing. Results： c.C50T and c.G148A mutations which led to p.S17F and p.D50N in the GJB2 gene were found in the two patients, respectively. These two mutations were not detected in 100 normal control individuals. Our patients can be definitely diagnosed as keratitis-ichthyosis-deafness syndrome. Conclusion： Keratitis-ichthyosis-deafness syndrome may be as- sociated with severe fungal infection which makes the correct diagnosis confusing. Mutation analysis is an optimal approach for the accurate diagnosis, c.C50T and c.G148A mutations in GJB2 gene may contribute to the clinical phenotype of keratitis- ichthyosis-deafness syndrome, as well as susceptibility to fungal infection in our patients.

关 键 词：角膜炎 鱼鳞病 耳聋综合征 真菌感染 GJB2基因 基因突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]