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.
Departments of *Laboratory Medicine and Genetics
∥Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine
§Department of Hematology, Catholic Hematology Hospital, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul
†Department of Laboratory Medicine and Genetics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea
The authors declare no conflict of interest.
Reprints: Hee-Jin Kim, MD, PhD, Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea (e-mail: firstname.lastname@example.org).
Received August 3, 2018
Accepted September 21, 2018