郑州大学学报（医学版）2025，Vol.60Issue(2)：238-241,4.DOI:10.13705/j.issn.1671-6825.2024.04.002
多个Wiskott-Aldrich综合征家系致病基因突变分析及产前诊断
Gene mutation analysis of 11 Wiskott-Aldrich syndrome families and pre-natal diagnosis
摘要
Abstract
Aim:To analyze the pathogenic gene mutations of 11 families with Wiskott-Aldrich syndrome(WAS)and to conduct corresponding prenatal diagnosis strategies.Methods:Medical histories and clinical data were collected from 11 families with WAS.The peripheral venous blood samples from the probands(affected children)and their mothers in pedi-grees 1-11 were collected,and fetal amniotic fluid or chorionic villus samples in pedigrees 1-5 and 11 were extracted,and next-generation gene sequencing(NGS),Sanger sequencing,and mutation effect prediction were performed to analyze the exonic and flanking sequences of the WAS gene,identify the mutation sites,and conduct prenatal diagnosis.Results:The probands in 11 families had exhibited significant clinical symptoms,including decreased platelet count,infections,and bleeding.Genetic sequencing identified 10 pathogenic mutations,among which,c.273G＞A,c.361-2A＞T,c.1183_1191 del,and c.331_332insCC were newly reported.Prenatal diagnosis was performed for the affected families.In 5 fami-lies,the fetuses carried the same mutation as the proband and the mother,leading to a decision to terminate the pregnancy;another 5 families chose to treat the probands clinically;in 1 family,the proband and mother carried the c.946dupC frame-shift mutation,but the fetal genetic test was normal,and genetic counseling was completed.Conclusion:Ten pathogenic mu-tations of WAS gene were found in 11 families,with 4 being reported for the first time.The use of NGS to identify the etiolo-gy of WAS patients and provide customized prenatal diagnosis is an effective method to prevent the recurrence of affected children in families with a history of WAS.关键词
Wiskott-Aldrich综合征/WAS基因/基因突变/产前诊断Key words
Wiskott-Aldrich syndrome/WAS gene/gene mutation/prenatal diagnosis分类
医药卫生引用本文复制引用
徐若琛,贾竟,赵振华,冯乐丞,代启森,苗长青,张桢,孔祥东,郑红..多个Wiskott-Aldrich综合征家系致病基因突变分析及产前诊断[J].郑州大学学报（医学版）,2025,60(2):238-241,4.基金项目
国家自然科学基金面上项目(81571154) （81571154）
2023年郑州大学研究生自主创新项目 （）
