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J Pediatr Genet 2020; 09(03): 203-206
DOI: 10.1055/s-0039-3399523
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Novel ELANE Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review

Yue Jia
1   Department of Pathology, Harbor-UCLA Medical Center, Torrance, California, United States
,
Changjun Yue
1   Department of Pathology, Harbor-UCLA Medical Center, Torrance, California, United States
,
Kathryn Bradford
3   Division of Hematology/Oncology, Department of Pediatrics, Mattel Children's Hospital, David Geffen School of Medicine at UCLA, Los Angeles, California, United States
,
Xin Qing
1   Department of Pathology, Harbor-UCLA Medical Center, Torrance, California, United States
,
Eduard H. Panosyan
2   Division of Hematology/Oncology, Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California, United States
,
Moran Gotesman
2   Division of Hematology/Oncology, Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California, United States
› Author Affiliations
Further Information

Publication History

03 August 2019

30 September 2019

Publication Date:
18 November 2019 (online)

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Abstract

Severe neutropenia is defined as an absolute neutrophil count (ANC) of less than 0.5 × 109/L. Severe congenital neutropenia (SCN) is an inborn disorder with maturation arrest of granulocytes due to various genetic abnormalities, which may lead to immunodeficiency. Among several associated genetic mutations, the variants or heterozygous mutations of the ELANE gene coding neutrophil elastase comprise approximately 50% of the genetic causes of SCN. We present a newborn (male) with severe neutropenia due to a novel ELANE gene mutation. The newborn was born at 386/7 weeks gestation to a 25-year-old mother with hypertension and morbid obesity. Pregnancy and delivery were uncomplicated but the baby obtained a complete blood count (CBC) on day of life 2 for a work up of hyperbilirubinemia. He was noted to initially have an ANC of 0.2 × 109/L and 0 on subsequent blood counts. A bone marrow biopsy showed a left shift and consistent with myeloid maturation arrest. In direct DNA sequencing analysis, we found an ELANE gene mutation (Val119Glu, V119E), which may be a new gene mutation to cause SCN. The diagnosis of SCN in newborns is usually based on neutropenia identified on a routine CBC. Sufficient awareness and high suspicion of this rare disease can prevent missed or delayed diagnosis of SCN. Our analysis also suggests a new pathological mutation in the ELANE gene and supports the important role of molecular testing in SCN.

Keywords

severe congenital neutropenia - ELANE mutation - newborn
 

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