早发型结节病临床及基因突变分析  

Clinical and mutation analysis of CARDl5/NOD2 gene in a patient with early-onset sarcoidosis

作　　者：李静[1] 耿松梅[1] 

机构地区：[1]西安交通大学第二附属医院皮肤科,陕西西安710004

出　　处：《临床皮肤科杂志》2015年第2期81-84,共4页Journal of Clinical Dermatology

基　　金：教育部新世纪人才支持计划(NCET-10-0673)资助项目

摘　　要：目的:探讨伴随血压升高的1例早发型结节病患儿临床表现及CARDl5基因突变情况。方法:提取患儿、其父母及102例健康人对照组外周血DNA,PCR扩增CARDl5基因所有编码区外显子,测序结果与正常序列对比,寻找致病的突变位点。结果:患儿临床及皮损组织病理表现均符合结节病,并随疾病发展出现血压增高。基因检测发现其CARDl5/NOD2基因4号外显子发生c.1000C>T杂合突变(p.R334W),其父母及102例健康对照者的相应外显子测序均未发现该突变。结论:该例早发型结节病患儿存在CARDl5/NOD2基因p.R334W热点突变,因此基因诊断可能是辅助诊断早发型结节病的有效手段。Objective： To detect the clinical manifestations and mutation of CARD15 gene in a patient of early-onset sar- coidosis with hypertension. Methods： DNA of peripheral blood was collected from the patient with early-onset sarcoidosis, his parents and 102 healthy controls. Exons of CARD15 were sequenced from DNA by PCR. The pathogenic mutation site was to be found according to the comparison with normal sequence. Results： Both clinical features and histopathological findings of the patient were consistent with early-onset sarcoidosis, moreover hypertension occurred along with the development of skin lesion. A heterozygous missense recurrent mutation c.1000C〉T（p.R334W） was detected in exon 4 of the CARD15 gene in the patient, but not found in either of his parents or any of the 102 healthy controls. Conclusions： p.R334W mutation in CARD15/NOD2 gene was detected in the patient with early-onset sareoidosis, gene analysis may be a useful method to diagnose early-onset sarcoidosis,

关 键 词：结节病 CARDl5基因 突变 

分 类 号：R758.4[医药卫生—皮肤病学与性病学]