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[Clinical and genetic analysis of four patients with congenital neutropenia]
Hao Zhu1, Qing Liao, Yuhong Gong
1Department of Pediatrics, Xianning Central Hospital, the First Affiliated Hospital of Hubei University of Science and Technology, Xianning, Hubei 437100, China. hbzhaohl@163.com.
Insights
Congenital neutropenia, characterized by recurrent infections, is often caused by ELANE gene mutations. This study identified four patients with ELANE variants, including two novel ones, advancing our understanding of this condition.
Area of Science:
- Genetics
- Hematology
- Pediatrics
Background:
- Congenital neutropenia presents as recurrent bacterial infections.
- Mutations in the ELANE gene are a frequent cause of congenital neutropenia.
Purpose of the Study:
- To characterize the clinical presentation and genetic underpinnings of four pediatric patients diagnosed with congenital neutropenia.
- To identify novel genetic variants associated with ELANE-related neutropenia.
Main Methods:
- Whole exome sequencing (WES) was performed on all four patients.
- Identified variants were confirmed using Sanger sequencing.
Main Results:
- Four patients (7-15 months old) presented with neutropenia and recurrent infections, showing impaired neutrophil development in bone marrow.
- WES revealed heterozygous ELANE gene variants (c.496G>A, c.58C>G, c.391G>A, IVS1+5T>A), with c.58C>G and IVS1+5T>A being previously unreported.
- Clinical follow-up indicated periodic neutropenia in two patients and severe congenital neutropenia in the other two.
Conclusions:
- ELANE gene mutations are a common cause of congenital neutropenia, manifesting as refractory recurrent bacterial infections.
- This study reports two novel pathogenic variants in the ELANE gene, contributing to the genetic landscape of congenital neutropenia.
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.
