ANKRD26基因突变所致THC2患儿的基因表型与临床特征分析

Analysis of clinical features and genotype of inherited thrombocytopenia type 2 induced by ANKRD26 gene mutation

目的:分析3例ANKRD26基因突变所致遗传性血小板减少症2型(THC2)的临床特征与基因突变家系谱,探讨ANKRD26基因突变类型与THC2临床表型之间的关系。方法:回顾性分析2017年5月-10月在医院血液肿瘤科诊治的3例THC2患儿临床资料与一般实验室检查结果,使用二代技术(NGS)进行全外显子检测(WES)、基因数据和致病突变验证三个主要步骤对先证者及其家庭成员ANKRD26基因进行测序、筛查和分析。结果:3例患儿初诊时均PLT<20×10^(9)/L,皆有淤点瘀斑,初诊时丙球及激素效果欠佳。基因分析结果均存在ANKRD26基因突变,突变位点分别位于第22号外显子、第1号外显子启动区与第30号外显子,突变类型均为杂合突变。结论:THC2是一组异质性疾病,其不同基因突变类型预后差别很大,ANKRD26基因多态性可能为影响THC2患儿临床表现的关键因素。

Objective:To investigate the gene sequencing results and clinical features of inherited thrombocytopenia 2(THC2)caused by ANKRD26 gene mutation in 3 cases,analyzed the relationship between the mutation type of ANKRD26 gene and the clinical phenotype of THC2.Methods:The clinical date of 3 patients with THC2 in the Department of Hematology and Oncology,Anhui Provincial Children’s Hospital from May 2017 to October were retrospectively analyzed.The 3cases were analyzed,and gene sequencing analysis of WASP gene were performed by next-generation Sequencing(NGS).Results:All 3 Patients presented with the thrombocytopenia,clinical presentations were skin petechiae and ecchymoses,the therapeutice effect of the glicocorticoid and immunoglobulin was not satisfactory.Mutation of ANKRD26 gene was found in all patients.The mutation sites were located in the promoter region of exon 22,exon 1 and exon 30,respectively,and the mutation types were heterozygous.Conclusion:THC2 is a group of heterogeneous diseases,the prognosis of which varies greatly with different gene mutation types.ANKRD26 gene polymorphism may be a key factor affecting the clinical manifestations of patients with THC2.