先天性非大疱性鱼鳞病样红皮病1例及其家系突变基因的检测  

Non-bullous Congenital Ichthyosiform Erythroderma: A Case Report and Mutation Analysis

作　　者：汪丹[1] 何永萍[1] 李仲桃 汪盛[1] 

机构地区：[1]四川大学华西医院皮肤性病科,四川成都610041

出　　处：《中国皮肤性病学杂志》2016年第11期1116-1119,共4页The Chinese Journal of Dermatovenereology

基　　金：四川省科技厅科技支撑计划(2014SZ0234)

摘　　要：目的报告1例先天性非大疱性鱼鳞病样红皮病(non-bullous congenital ichthyosiform erythroderma,NBCIE)患者,并进行相关致病基因的突变研究。方法收集患者及其父母的临床资料及外周血,提取基因组DNA,PCR扩增TGMl,ALOXl2B,ALOXE3,ABCA12,CYP4F22,NIPAL4基因外显子及剪切位点序列,通过DNA测序寻找基因突变。结果发现患者NIPAL4基因第2号外显子存在一个纯合无义突变c.433C>T,导致该处密码子由CGA变成TGA,使得第145位氨基酸由精氨酸(R)变为终止密码(p.R145X)。患者父母均为该突变杂合携带者。结论国内尚无NBCIE患者相关致病基因突变的报道,本研究显示NIPAL4基因c.433C>T突变可能是本例NBCIE患者发病的分子学基础。Objective To report a case of non-bullous congenital ichthyosiform erythroderma（NBCIE）and to analyze the mutations in the disease-related genes.Methods Clinical data were collected and blood samples were obtained from a 33 year-old patient with NBCIE and his parents. Genomic DNA was extracted and subjected to PCR for the amplification of the entire encoding and splice sites of the TGMl, ALOXl2B, ALOXE3, ABCA12, CYP4F22 and NIPAL4 genes followed by bidirectional sequencing.Results A homozygous nonsense mutation c.433C〉T,which results in the premature stop codon TGA at amino acid position 145（p.R145X）,was found in exon 2 of the NIPAL4 gene in the patient. His parents were found to be heterozygous for this mutation.Conclusion To the best of our knowledge, no gene mutation related to NBCIE has been reported before in China. Mutation c.433C〉T in NIPAL4 gene may well be the molecular basis of the pathogenesis of NBCIE in this case.

关 键 词：红皮病 鱼鳞病样 非大疱性 先天性 NIPAL4 突变 

分 类 号：R758.67[医药卫生—皮肤病学与性病学]