Blau综合征2例基因变异检测及基因型与表型分析  

Genetic Mutation Detection and Analysis of the Genotype and Phenotype in Two Cases of Blau Syndrome

作　　者：王晨 王建波 王伟霞 黄淑雅 李建国 李振鲁 张守民 WANG Chen;WANG Jianbo;WANG Weixia;HUANG Shuya;LI Jianguo;LI Zhenlu;ZHANG Shoumin(Department of Dermatology,Henan Provincial People's Hospital,Zhengzhou University People's Hospital,Henan University People's Hospital,Zhengzhou 450003,China)

机构地区：[1]河南省人民医院皮肤科,郑州大学人民医院皮肤科,河南大学人民医院皮肤科,河南郑州450003

出　　处：《中国皮肤性病学杂志》2023年第4期385-389,共5页The Chinese Journal of Dermatovenereology

基　　金：河南省医学科技攻关计划省部共建青年项目(SB201904011);河南省科技发展计划项目(182102310580)。

摘　　要：目的确定Blau综合征(Blau syndrome,BS)2例患儿的致病基因,探讨Blau综合征基因型、表型及两者间关系。方法收集2例Blau综合征患儿及其父母临床资料,采集他们和100例无亲缘关系健康对照者的外周血标本,提取DNA。应用全外显子测序技术筛选患儿基因变异位点,Sanger测序验证。结果2例患儿分别在NOD2基因第4号外显子存在c.1001G>A(p.R334Q)和c.1000C>T(p.R334W)变异,而其父母及100例健康对照者均未发现对应变异。结论本研究在2例Blau综合征患儿中检测到2个致病变异位点NOD2基因c.1001G>A(p.R334Q)和c.1000C>T(p.R334W),同时丰富了BS的基因型、表型及两者间关系的研究。Objective To perform pathogenic gene in two cases of Blau syndrome(BS),and explore the relationship between genotype and phenotype.Methods Clinical data and peripheral blood samples were collected from the two cases of BS and their parents,and 100 unrelated healthy as controls.After DNA was extracted,Genome-wide exon sequencing was used to screen the mutation and then Sanger sequencing methodwas used for verification.Results Two genetic variation sites c.1001G>A(p.R334Q)and c.1000C>T(p.R334W)in exon 4 of NOD2 gene were detected in the two cases of BS,yet were not observed in their parents and the 100 healthy controls.Conclusion We identified two pathogenic variation sites in the two cases of BS,and the two sites enrich the research on the phenotype,genotype and phenotype-genotype relationship of BS.

关 键 词：Blau综合征 NOD2基因 基因型 表型 

分 类 号：R725.9[医药卫生—儿科]