1例儿童先天性粒细胞减少症的基因诊断

摘要

目的 应用基因诊断方法进一步提高对儿童先天性粒细胞减少症(CN)的认识和诊断水平.方法 以1例儿童CN患者为研究对象,收集其临床资料、实验室检查结果,按序检测ELA2、GFI1、HAX1及WASp致病基因突变情况.依上述步骤对患儿分别进行疾病的临床及基因诊断并随访.结果 参照诊断标准该患儿诊断为无遗传背景的散发性非综合征性CN；基因检测显示其携带已经报道的LA2基因突变:c.164G＞A；此外患儿中性粒细胞表面G-CSFR表达正常,G-CSFR胞内段未发现获得性截短性突变.结论 基因突变检测证实1例儿童CN为LA2基因突变所致,为该患儿未来的分组临床研究及基因治疗提供依据.%Objective To improve the understanding and diagnosis of congenital neutropenia (CN) in children by the use of gene mutation analysis. Methods Clinical data and laboratory results of a child suspected of CN were collected. ELA2, GFI1, HAX1, and WASp genes were sequenced. Clinical and genetic diagnosis of the child was made according to the above steps and a follow-up was carried out. Results The diagnosis of a non-syndromic and sporadic CN with no genetic background was made for this patient according to the criteria; the mutation of C.164G＞A, p.Cys26Tyr in ELA2 which has been reported was found. Expression level of G-CSFR on the neutorphil from this patient was detected to be normal and no truncated mutation was found in the intracel-lular domain of G-CSFR. Conclusions The gene mutation analysis was performed for the genetic diagnosis of a child suspected of congenital neutropenia and ELA2 mutation of C.164G＞A, p.Cys26Tyr was confirmed in this case. The data provide the background for further clinical research as well as gene therapy in this patient.