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

Yue Jia; Changjun Yue; Kathryn Bradford; Xin Qing; Eduard H. Panosyan; Moran Gotesman

doi:10.1055/s-0039-3399523

Journal of Pediatric Genetics, Table of Contents

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

¹Department of Pathology, Harbor-UCLA Medical Center, Torrance, California, United States

,

Changjun Yue

¹Department of Pathology, Harbor-UCLA Medical Center, Torrance, California, United States

,

Kathryn Bradford

³Division of Hematology/Oncology, Department of Pediatrics, Mattel Children's Hospital, David Geffen School of Medicine at UCLA, Los Angeles, California, United States

,

Xin Qing

¹Department of Pathology, Harbor-UCLA Medical Center, Torrance, California, United States

,

Eduard H. Panosyan

²Division of Hematology/Oncology, Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California, United States

,

Moran Gotesman

²Division of Hematology/Oncology, Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California, United States

› Author Affiliations

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 38^6/7 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

Full Text

References

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