Genetic screening in early diagnosis of neonatal WAS gene-related disorders
10.3760/cma.j.issn.0578-1310.2019.06.006
- VernacularTitle:基因筛查在早期识别新生儿WAS基因相关疾病中的临床应用
- Author:
Xu LIU
1
;
Lin YANG
;
Xiaochuan WANG
;
Bingbing WU
;
Huijun WANG
;
Hongsheng WANG
;
Xiaowen QIAN
;
Guoqiang CHENG
;
Yun CAO
;
Jinqiao SUN
;
Wenhao ZHOU
Author Information
1. 复旦大学附属儿科医院新生儿科
- Keywords:
Wiskott-Aldrich syndrome;
Genes;
Infant,newborn
- From:
Chinese Journal of Pediatrics
2019;57(6):429-433
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical value of genetic screening for early identification of WAS gene-related disorders in newborns.Methods This was a retrospective study.Neonatal Genome Project from Children's Hospital of Fudan University collected 5 800 high-risk newborns in the neonatal intensive care unit to study the patients' genetic causes using high-throughput sequencing from January 2016 to December 2017.Eleven newborns (all were boys) with pathogenic or likely pathogenic variants in WAS gene were enrolled.Data of clinical characteristics,gene variants and genotype-phenotype correlation were collected and summarized.Results Eleven patients included 5 cases with Wiskott-Aldrich syndrome (WAS) and 6 cases with X-linked thrombocytopenia (XLT).Two patients with WAS developed clinical manifestations in the early neonatal period,and 3 patients in 5-8 weeks after birth.Three neonates with XLT were hospitalized for other diseases in the first place.Their platelet count was found to be reduced after admission to hospital,and diagnosis was made after genetic testing.Eleven pathogenic or likely pathogenic variants in WAS gene were identified.Among them,7 were first reported in this study,including 2 frame shift variants c.138delG and c.388_390del,4 splicing variants c.1453+ 1G＞A,c.734+ 1G＞C,c.135G＞A and c.1453+3G＞C,and 1 missense variant c.1118C＞T.The other 4 reported variants were c.777+ 1G＞A,c.107_ 108delTT,c.436delC and c.1509_*3delAGTG.Conclusions The clinical features of WAS gene-related disorders in neonatal period lack specificity.Genetic screening in newborns plays an important role in the early diagnosis of diseases and provides providing evidence for the early intervention.
