Clinical and genetic analysis of four patients with congenital neutropenia.
10.3760/cma.j.cn511374-20190825-00430
- Author:
Hao ZHU
1
;
Qing LIAO
;
Yuhong GONG
;
Biao XU
;
Chao ZHANG
;
Hongling ZHAO
Author Information
1. Department of Pediatrics, Xianning Central Hospital, the First Affiliated Hospital of Hubei University of Science and Technology, Xianning, Hubei 437100, China. hbzhaohl@163.com.
- Publication Type:Journal Article
- MeSH:
Congenital Bone Marrow Failure Syndromes/genetics*;
Female;
Genetic Testing;
Humans;
Infant;
Leukocyte Elastase/genetics*;
Male;
Mutation;
Neutropenia/genetics*
- From:
Chinese Journal of Medical Genetics
2020;37(11):1222-1225
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To delineate the clinical feature and genetic basis of four patients with congenital neutropenia.
METHODS:All patients were subjected to whole exome sequencing (WES). Suspected variants were verified by Sanger sequencing.
RESULTS:The patients (two boys and two girls), aged 7 to 15 months, suffered from neutropenia and recurrent infections. Bone marrow smears showed a significant decrease in the proportion of rod-shaped and lobulated granulocytes, which suggested impaired development and maturation of bone marrow neutrophils. WES has discovered heterozygous variants (c.496G>A, c.58C>G, c.391G>A and IVS1+5T>A) of the ELANE gene in the patients. Among these, c.58C>G and IVS1+5T>A were unreported previously. Follow up revealed patients 1 and 3 had periodic neutropenia, while patients 2 and 4 had severe congenital neutropenia. After attaining the definite diagnosis, the patients were treated symptomatically.
CONCLUSION:The main clinical feature of congenital neutropenia is refractory recurrent bacterial infections, for which mutations of the ELANE gene are a common cause. Two novel pathogenic ELANE variants have been discovered in this study.
