Program in Molecular Medicine; UMass Metabolic Network
Cell Biology | Cellular and Molecular Physiology | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Hematology | Hemic and Immune Systems | Hemic and Lymphatic Diseases
The human proteins rabenosyn-5 and VPS45 form a complex that plays a key role in early endocytosis. Pathogenic variants in VPS45 cause severe congenital neutropenia (SCN) with impaired neutrophil function, reticulin fibrosis of the bone marrow, and extramedullary hematopoiesis (OMIM: 615285). Patients with a specific VPS45 variant (p.Glu238Lys) also have intellectual disability and bilateral optic nerve hypoplasia. To date, the only evidence of a potential role for RBSN in human disease is the report of a homozygous missense variant (p.Gly425Arg) in a patient with intellectual disability, seizures, microcephaly, osteopenia, mild reticulin fibrosis of the bone marrow, and transient neutropenia.
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Copyright © 2018 American Society of Hematology. Accepted manuscript posted after 12 months as allowed by the publisher's author rights policy at http://www.bloodjournal.org/page/authors/copyright-information.
DOI of Published Version
Blood. 2018 May 21. pii: blood-2017-12-824433. doi: 10.1182/blood-2017-12-824433. [Epub ahead of print] Link to article on publisher's site
Magoulas, Pilar L.; Corvera, Silvia; and Franco, Luis M., "Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN" (2018). University of Massachusetts Medical School Faculty Publications. 1589.
Available for download on Tuesday, May 21, 2019
Cell Biology Commons, Cellular and Molecular Physiology Commons, Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Hematology Commons, Hemic and Immune Systems Commons, Hemic and Lymphatic Diseases Commons