角膜炎-鱼鳞病-耳聋综合征

发布时间：2019-04-25 06:47

【摘要】：目的:报告1例角膜炎-鱼鳞病-耳聋综合征并进行基因检测。方法:收集1例角膜炎-鱼鳞病-耳聋综合征患儿的临床资料,提取患儿及其家族成员(父母和舅舅)外周血DNA进行基因突变检测。结果:该患儿皮损组织病理检查示鱼鳞病样改变。基因检测示GJB2基因外显子2中的第148位碱基发生G→T杂合突变(c.148G→T),导致其编码的第50位氨基酸发生错义突变(p.Asp50Tyr)。结论:根据患儿典型的临床表现和基因检测结果诊断为角膜炎-鱼鳞病-耳聋综合征。基因检测有助于明确该病诊断。
[Abstract]:Objective: to report a case of keratitis-ichthyosis-deafness syndrome and to detect the gene. Methods: the clinical data of a child with keratitis-ichthyosis-deafness syndrome were collected and the DNA gene mutation was detected in the peripheral blood of the children and their family members (parents and uncles). Results: the pathological examination of the skin lesions of the children showed fish scale-like changes. Gene analysis showed that G / T heterozygous mutation (c. 148) occurred at 148th base in exon 2 of GJB2 gene, which resulted in missense mutation (p.Asp50Tyr) at the 50th amino acid of GJB2 gene. Conclusion: keratitis-ichthyosis-deafness syndrome is diagnosed as keratitis-ichthyosis-deafness syndrome. Gene detection can help to identify the diagnosis of the disease.
【作者单位】： 首都医科大学附属北京儿童医院皮肤科;
【分类号】：R758.52
，

本文编号：2464880