Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation

Am J Med Genet A. 2015 Dec;167A(12):3214-8. doi: 10.1002/ajmg.a.37367. Epub 2015 Sep 11.

Abstract

VPS45 mutations cause severe congenital neutropenia (SCN). We report on a girl with SCN and neurological impairment harboring a homozygous p.E238K mutation in VPS45 (vacuolar sorting protein 45). She successfully underwent hematopoietic stem cell transplantation. Our findings delineate the phenotype and indicate a possible genotype-phenotype correlation for neurological involvement.

Keywords: bone marrow fibrosis; genetics; hematopoietic stem cell transplantation; neutropenia.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Congenital Bone Marrow Failure Syndromes
  • Female
  • Genotype
  • Homozygote*
  • Humans
  • Mutation / genetics*
  • Nervous System Diseases / etiology*
  • Nervous System Diseases / pathology
  • Neutropenia / complications
  • Neutropenia / congenital*
  • Neutropenia / genetics
  • Neutropenia / pathology
  • Phenotype
  • Prognosis
  • Vesicular Transport Proteins / genetics*

Substances

  • VPS45 protein, human
  • Vesicular Transport Proteins

Supplementary concepts

  • Neutropenia, Severe Congenital, Autosomal Recessive 3