Molecular Pathobiology of VPS45 Bone Marrow Failure
Abstract
A very severe inherited bone marrow failure (BMF) syndrome is caused by mutations in the endosomal-lysosomal vacuolar protein sorting regulator VPS45.1-3 Missense mutations in two highly conserved residues (T224N and E238K) of VPS45 were identified in several consanguineous families and additional families with the same and novel VPS45 mutations have since been identified in Israel and the U.S.4-6. All have severe congenital neutropenia (SCN) with neutrophil and platelet dysfunction, as well as myelofibrosis leading to multilineage BMF.
Document Details
- Document Type
- Technical Report
- Publication Date
- Apr 01, 2018
- Accession Number
- AD1059187
Entities
People
- Peter E. Newburger
Organizations
- University of Massachusetts Medical School