摘要
目的分析3例Wiskott-Aldrich综合征(WAS)患儿基因型及临床表现,以鉴别诊断要点,拓展诊断方法。方法收集2018年6月-2020年7月在安徽省儿童医院新生儿科接受治疗的3例WAS患儿资料,采用全外显子组测序(WES)方法检测患儿及其父母WAS基因突变情况,Sanger测序验证突变位点。结果3例患儿主要表现为不同程度的血小板减少,其中病例1、3伴有细菌感染,均存在自身免疫性疾病,符合5分标准,为WAS;病例2符合1分标准,为X连锁的血小板减少症(XLT)。3例患儿WAS基因突变分别位于1、4和10号外显子,均为移码突变。3例患儿父亲均正常,母亲均存在与患儿相应位点的突变,说明母亲为WAS基因突变携带者,突变均遗传自母亲。结论基因检测为诊断WAS的有效方法,通过家系WES(trio-WES)检测WAS基因突变位点可了解突变来源,能够为临床提供优生优育参考,为临床治疗WAS提供新思路。
Objective To analyze the genotypes and clinical manifestations of three children with Wiskott-Aldrich syndrome(WAS)in order to identify the main points of diagnosis and expand the diagnostic methods.Methods The data of 3 children with WAS in our hospital were collected,and the mutations of WAS gene in children and their parents were detected by whole exome sequencing(WES).Results The main manifestations of the three cases were thrombocytopenia in different degrees,and among them,case 1 and 3 were associated with virus or bacterial infection,and both of them had autoimmune diseases,which met the 5-point standard and were regarded as WAS;the case 2 met the 1-point standard,and was X-linked thrombocytopenia(XLT).The WAS gene mutations in the three children were located in exons 1,4,and 10;all of which were frame shift mutations.The fathers of the 3 cases were normal,and their mothers had the mutations of the corresponding site with the children,which indicated that the mothers were the carriers of WAS gene mutations,and the mutations were all inherited from their mothers.Conclusions Gene detection was an effective method for the diagnosis of WAS.The mutation source of WAS gene in patients and their parents could be discovered by trio-WES,which could provide reference for clinical guidance of eugenics,and provide new ideas for clinical treatment of WAS.
作者
王娟
陈珺
赵凤霞
戴立英
WANG Juan;CHEN Jun;ZHAO Feng-xia;DAI Li-yin(Department of Neonatology,Anhui Provincial Children's Hospital,Hefei,Anhui 230000,China)
出处
《热带医学杂志》
CAS
2021年第8期1011-1015,共5页
Journal of Tropical Medicine
基金
安徽省儿科急救转运技术培训与体系建设项目(2017070802D154)
2017年“组援医学项目”(XZ2017ZRZYZ05)
