一例早发型结节病患者CARD15／NOD2基因的突变  

Mutation analysis of CARD15/NOD2 gene in a patient with early-onset sarcoidosis

作　　者：李名扬[1] 林志淼[1] 陈荃[1] 汪慧君[1] 张洁[1] 王晓雯[1] 杨勇[1] 

机构地区：[1]北京大学第一医院皮肤科,100034

出　　处：《中华皮肤科杂志》2012年第9期613-615,共3页Chinese Journal of Dermatology

基　　金：国家自然科学基金（8107-1289）;首都医学发展科研基金（2009-2023）

摘　　要：目的探讨1例结节病和肺结核的患者CARD15基因突变情况。方法收集患者的临床资料，提取患者外周血DNA，PCR扩增CARD15基因所有编码区外显子及侧翼序列并测序，测序结果与正常序列比对，寻找致病性突变位点。结果患者皮疹及组织病理表现均符合结节病，但伴有明确的指问关节屈曲挛缩和虹膜睫状体炎。基因检测发现其CARD15／NOD2基因4号外显子发生c．1000C〉T杂合突变（p．R334W），父母及102例健康对照的相应外显子测序均未发现该突变。该突变位点在既往研究中的其他早发型结节病及Blau综合征患者中曾被报道过。结论患者为CARD15／NOD2基因p．R334W突变所致的早发型结节病，基因诊断是明确早发结节病病因的有效手段。Objective To detect the mutation of CARD15 gene in a patient with sarcoidosis and tuber- culosis. Methods Clinical data were collected from a 32-year-old male patient with early-onset sarcoidosis and tuberculosis. Peripheral blood was obtained from the patient, both of his parents, and 102 healthy controls. All the 12 exons of the coding regions as well as flanking intronic sequences of the CARD15 gene were amplified by PCR followed by direct sequencing. The resulted sequences were blasted against the reference sequences of CARD15 gene. Results Both clinical features and histopathological findings of the patient were consistent with sarcoidosis. Furthermore, the patient presented with flexion contractures of fingers and toes, as well as iridocycli- tis. A heterozygous missense recurrent mutation c.1000C 〉 T （p.R334W） was detected in exon 4 of the CARD15 gene in the patient, but not in either of his parents or any of the 102 healthy controls. Conclusions A p.R334W mutation in the CARD15 is identified in the patient, which may be responsible for the clinical phenotype of early- onset sarcoidosis. Gene analysis may be a useful method to clarify the etiology of early-onset sarcoidosis.

关 键 词：结节病 基因 CARD15 突变 肉芽肿 

分 类 号：R593.9[医药卫生—内科学] R521[医药卫生—临床医学]