新发角膜炎、鱼鳞病、耳聋综合征1例报告并文献复习  

Gene diagnosis of de novo mutation of a patient with keratitis ichthyosis and deafness syndrome with literature review

作　　者：王建才[1] 徐哲[1] 林志淼[2] 杨勇[2] 马琳[1] 

机构地区：[1]首都医科大学附属北京儿童医院皮肤科,100045 [2]北京大学第一医院皮肤科

出　　处：《北京医学》2012年第5期368-370,共3页Beijing Medical Journal

基　　金：北京市卫生系统高层次卫生技术人才培养计划项目资助(项目编号2009-3-39)

摘　　要：目的通过检测1例散发型角膜炎、鱼鳞病、耳聋综合征患儿的基因突变情况,明确其诊断。方法总结患儿临床资料,提取外周血DNA,采用PCR扩增GJB2基因编码区的全部外显子及其侧翼序列并测序。并以50例健康者作为对照。结果该患者GJB2基因外显子中的第148位碱基发生G→A杂合突变(C.148G>A),导致其编码的第50位氨基酸发生错义突变(p.D50N),患者父母均未发现该突变。患者诊断为角膜炎、鱼鳞病、耳聋综合征。结论对从临床表现上诊断困难的病例,在完善全面检查的基础上寻找基因的诊断依据是有效的诊断方法。Objective To determine the gene mutations of a patient with keratitis ichthyosis and deafness syndrome and review of the literature. Methods All exons and their flanking sequences of the GJB2 gene were amplified by PCR and the DNAs were sequenced. Results A mutation was identified in this patient.A heterozygous mutation C.148G〉A in GJB2 exon 2 which led to the amino acid change of P. D50N were detected. No mutation was found in other members of the patient＇s family, and in 50 normal controls. Conclusion By finding the P. D50N mutation of GJB2 gene in a patient who did not get the correct diagnosis for a long time, we finally confirm the diagnosis of KID syndrome. However, we could not find the mutation in her parents, which may indicate that it might be a de novo mutation.

关 键 词：角膜炎 鱼鳞病 耳聋综合征 基因突变 

分 类 号：R772.21[医药卫生—眼科]