Clinical and genetic characteristics of 11 neonates with Wiskott-Aldrich syndrome
10.3760/cma.j.issn.2096-2932.2023.04.005
- VernacularTitle:Wiskott-Aldrich综合征11例临床表现及基因特征分析
- Author:
Wendi HUANG
1
;
Lu CHEN
;
Jiakai WEI
;
Ying YANG
;
Yujuan ZHAO
Author Information
1. 国家儿童区域医疗中心（西北），西安交通大学附属西安市儿童医院新生儿科，西安 710003
- Keywords:
Wiskott-Aldrich syndrome;
Gene;
Newborn;
Infant
- From:Chinese Journal of Neonatology
2023;38(4):215-219
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To study the clinical and genetic characteristics of Wiskott-Aldrich syndrome (WAS) in neonates.Methods:From January 2016 to August 2022, neonates with WAS admitted to the neonatal department of our hospital were studied.Their clinical features, laboratory findings, genetic characteristics and clinical outcomes were retrospectively analyzed.Results:A total of 11 neonates(all male) were included. The mothers of 3 neonates had thrombocytopenia during pregnancy. The presenting symptoms included isolated bloody stool (4 cases), jaundice (3 cases), bloody stool with petechiae, bloody stool with hematemesis, cough and fever(1 case each). Eczema appeared from 6 d to 3 months after birth and in 6 cases during the neonatal period. None of the 11 cases had serious infection during the neonatal period. 9 cases had infection from 8 d to 5 months and 2 cases had not been infected until the last follow-up. Genetic sequencing showed four frameshift variants(c.30dupC, c.205dupT, c.1340_1343dupC and c.673_674delA), four nonsense variants(c.37C>T, c.295C>T, c.889C>T and c.823G>T) and three missense variants(c.134C>T, c.397G>A and c.341T>C). Pedigree verification of variants found 10 cases were inherited from their mothers and 1 case was de novo variant.Conclusions:WAS is characterized by bloody stool and eczema in the neonatal period, mostly without serious infections and lacking specific manifestations. Genetic screening for early identification of unexplained thrombocytopenia in male newborns should be performed as early as possible.
