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Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia
Author(s) -
Kim HeeJung,
Song MinJung,
Lee KiO,
Kim SunHee,
Kim HeeJin
Publication year - 2015
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25654
Subject(s) - congenital neutropenia , frameshift mutation , proband , medicine , germline mosaicism , genetics , mutation , germline mutation , neutropenia , compound heterozygosity , somatic cell , biology , gene , toxicity
Severe congenital neutropenia (SCN) is a bone marrow failure disease with an autosomal dominant inheritance from mutations in ELANE . Here, we report a 7‐week‐old Korean male with SCN. His elder sister died from pneumonia at 2 years. Direct sequencing of ELANE in the proband identified a heterozygous novel frameshift mutation: c.658delC (p.Arg220Glyfs20*). Family study involving his asymptomatic parents with normal cell counts revealed that his father had the same mutation, but at a lower burden than expected in a typical heterozygous state. Further molecular investigation demonstrated somatic mosaicism with ∼18% mutant alleles. We concluded the proband inherited the mutation from his somatic mosaic father. Pediatr Blood Cancer. © 2015 Wiley Periodicals, Inc.