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J Pediatr Hematol Oncol. 2018 Nov 30. doi: 10.1097/MPH.0000000000001353. [Epub ahead of print]

Cyclic Neutropenia From a Novel Mutation Ala57Asp of ELANE: Phenotypic Variability in Neutropenia From Mutated Ala57 Residue.

Author information

1
Departments of Laboratory Medicine and Genetics.
2
Department of Laboratory Medicine and Genetics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea.
3
Medicine.
4
Department of Hematology, Catholic Hematology Hospital, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul.
5
Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine.

Abstract

ELANE-related neutropenia includes severe congenital neutropenia and cyclic neutropenia. Both are clinically characterized by recurrent fever, skin and oropharyngeal inflammation. We report a novel mutation in ELANE in a 20-year-old man with a history of self-limiting febrile episodes and neutropenia with a cyclic pattern since 7 years of age. Direct sequencing analysis of ELANE revealed he was heterozygous for a novel missense mutation (p.Ala57Asp). The Ala57 residue is a mutation hotspot, and all previously reported missense mutations (Ala57Ser/Thr/Val) were observed in severe congenital neutropenia cases. Thus, the present case demonstrates a phenotypic variability in ELANE-related neutropenia from mutated Ala57.

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