先天性大疱性鱼鳞病样红皮病角蛋白10的新发突变  

A new mutation of KRT10 gene in a patient with bullous congenital ichthyosiform erythroderma

作　　者：王建才[1,2] 林志淼[1] 马志红[3] 谭燕红[1] 马琳[2] 杨勇[1] 

机构地区：[1]北京大学第一医院皮肤科,北京100034 [2]首都医科大学附属北京儿童医院皮肤科,100045 [3]牡丹江医学院附属医院皮肤科,牡丹江157000

出　　处：《中国麻风皮肤病杂志》2010年第8期549-551,共3页China Journal of Leprosy and Skin Diseases

基　　金：北京市科技新星计划(2007B006)

摘　　要：目的:检测1例先天性大疱性鱼鳞病样红皮病患者KRT1和KRT10基因突变。方法:提取患者及其家人外周血DNA,PCR扩增KRT1和KRT10基因编码区的全部外显子及其侧翼序列并测序,以100名正常人作对照。结果:该患者KRT10基因第1号外显子中的第466位碱基发生C→T杂合突变(c.C466T),导致其编码第156位氨基酸发生错义突变(p.R156C),患者父母、妹妹及正常对照均未发现该突变,提示其为新发突变。结论:KRT10基因的c.C466T错义突变可能为引起该患者临床表型的病因。Objective： To identify the KRT1 and KRT10 gene mutation in a patient with buUous congenital ichthyosiform erythroderma （BCIE）. Methods： All coding exons and their flanking sequences of the KRT1 and KRT10 gene were amplified by PCR in a patient with BCIE and her family members, and then, DNA sequencing was performed. One hundred normal people were used as controls. Result： A heterozygous missense mutation （c. CA66T）, which led to the replacement of the normal arginine codon （CGC） with a eysteine codon （TGC） at position 156 of the resultant protein （p. R156C） was identified. The mutation was not detected in her unaffected parents, one sister and 100 normal controls, indicating it was a new sporadic mutation. Conclusion： Mutation of c. C466T of KRT10 gene may be, the cause of the clinical phenotype of this sporadic patient.

关 键 词：先天性大疱性鱼鳞病样红皮病 KRT10基因 基因突变 

分 类 号：R758.52[医药卫生—皮肤病学与性病学]