A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency

Pediatr Blood Cancer. 2013 Jul;60(7):E29-31. doi: 10.1002/pbc.24499. Epub 2013 Feb 25.

Abstract

Severe congenital neutropenia type 4 (SCN4) is associated with mutations in the G6PC3 gene. To date, all patients bearing the p.Gly260Arg variant of the G6PC3 gene show heart defects. Here, we present a case of the p.Gly260Arg variant in a patient who did not have structural or functional heart anomalies. Treatment with granulocyte colony-stimulating factor recovered the absolute neutrophil count and neutrophil functional competence.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Glucose-6-Phosphatase / genetics*
  • Granulocyte Colony-Stimulating Factor / therapeutic use
  • Humans
  • Male
  • Neutropenia / drug therapy
  • Neutropenia / genetics*
  • Neutropenia / physiopathology*
  • Phenotype

Substances

  • Granulocyte Colony-Stimulating Factor
  • Glucose-6-Phosphatase
  • G6PC3 protein, human

Supplementary concepts

  • Neutropenia, Severe Congenital, Autosomal Recessive 4