Clinical and genetic analysis of two patients with congenital neutropenia caused by ELANE gene mutation / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the clinical characteristics of congenital neutropenia caused by ELANE gene mutations.@*METHODS@#Clinical manifestations, absolute blood neutrophil count, high-throughput exome sequencing for mutation screening, suspected locus Sanger sequencing verification, processes of diagnosis and treatment of two patients with congenital neutropenia caused by ELANE gene mutation were retrospectively analyzed.@*RESULTS@#High-throughput sequencing has found that proband 1 has carried a heterozygous c.170C>T (p.Ala57Val) missense mutation in exon 2 of the ELANE gene, which was known to be pathological, and a heterozygous c.251T>G (p.Leu84Arg) mutation in exon 3 of proband 2, which was unreported previously. Sanger sequencing confirmed that neither mutation was inherited from their parents.@*CONCLUSION@#ELANE mutation is an important cause for congenital neutropenia. Detection of new pathogenic variants has enriched the mutation spectrum of the ELANE gene.