Case Report: Heterozygous out-of-frame frameshift variant in ELANE without evidence of neutropenia
Mutations in the ELANE gene, which encodes neutrophil elastase, are known to cause cyclic neutropenia (CyN) and severe congenital neutropenia (SCN). Currently, targeting ELANE for insertion-deletion to trigger nonsense-mediated mRNA decay (NMD) may be …