Clinical and genetic analysis of two patients with congenital neutropenia caused by ELANE gene mutation.
10.3760/cma.j.cn511374-20190922-00487
- VernacularTitle:两例
ELANE基因突变所致先天性中性粒细胞减少症患者的临床及遗传学分析
- Author:
Hui LIU
1
;
Guanghua LIU
;
Peiran ZHAO
;
Liang HUANG
;
Youfeng ZHOU
;
Xiaojian QIU
;
Liangpu XU
Author Information
1. Department of Pediatrics, Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350001, China. ipxiu304@126.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(10):1097-1101
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical characteristics of congenital neutropenia caused by ELANE gene mutations.
METHODS:Clinical manifestations, absolute blood neutrophil count, high-throughput exome sequencing for mutation screening, suspected locus Sanger sequencing verification, processes of diagnosis and treatment of two patients with congenital neutropenia caused by ELANE gene mutation were retrospectively analyzed.
RESULTS:High-throughput sequencing has found that proband 1 has carried a heterozygous c.170C>T (p.Ala57Val) missense mutation in exon 2 of the ELANE gene, which was known to be pathological, and a heterozygous c.251T>G (p.Leu84Arg) mutation in exon 3 of proband 2, which was unreported previously. Sanger sequencing confirmed that neither mutation was inherited from their parents.
CONCLUSION:ELANE mutation is an important cause for congenital neutropenia. Detection of new pathogenic variants has enriched the mutation spectrum of the ELANE gene.
