CAJ | 학술논문

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,但伴有明确的指间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.
목적 탐토1례결절병화폐결핵적환자CARD15기인돌변정황.방법 수집환자적림상자료,제취환자외주혈DNA,PCR확증CARD15기인소유편마구외현자급측익서렬병측서,측서결과여정상서렬비대,심조치병성돌변위점.결과 환자피진급조직병리표현균부합결절병,단반유명학적지간관절굴곡련축화홍막첩상체염.기인검측발현기CARD15/NOD2기인4호외현자발생c.1000C＞T잡합돌변(p.R334W),부모급102례건강대조적상응외현자측서균미발현해돌변.해돌변위점재기왕연구중적기타조발형결절병급Blau종합정환자중증피보도과.결론 환자위CARD15/NOD2기인p.R334W돌변소치적조발형결절병,기인진단시명학조발결절병병인적유효수단.
Objective To detect the mutation of CARD15 gene in a patient with sarcoidosis and tuberculosis.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 iridocyclitis.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 earlyonset sarcoidosis.Gene analysis may be a useful method to clarify the etiology of early-onset sarcoidosis.