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Article

A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.

Pediatric blood & cancer - 1 Sept 2017

Shah Rikin K, Munson Mary, Wierenga Klaas J, Pokala Hanumantha R, Newburger Peter E, Crawford David

Abstract excerpt

VPS45-associated severe congenital neutropenia (SCN) is a rare disorder characterized by life-threating infections, neutropenia, neutrophil and platelet dysfunction, poor response to filgrastim, and myelofibrosis with extramedullary hematopoiesis. We present a patient with SCN due to a homozygous c.1403C>T (p.P468L) mutation in VPS45, critical regulator of SNARE-dependent membrane fusion. Structural modeling...

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Source

Identifiers

PMID: 28453180
DOI: 10.1002/pbc.26571

Genes

VPS45

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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