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Article

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

American journal of medical genetics. Part A - 1 Dec 2015

Meerschaut Ilse, Bordon Victoria, Dhooge Catharina, Delbeke Patricia, Vanlander Arnaud V, Simon Amos, Klein Christoph, Kooy R Frank, Somech Raz, Callewaert Bert

Abstract excerpt

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.

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Source

Identifiers

PMID: 26358756
DOI: 10.1002/ajmg.a.37367

Genes

VPS45

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.PMID 26358756Read ↗

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