University of Massachusetts Medical School Faculty Publications
UMMS Affiliation
Program in Molecular Medicine; UMass Metabolic Network
Publication Date
2018-05-21
Document Type
Article Postprint
Disciplines
Cell Biology | Cellular and Molecular Physiology | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Hematology | Hemic and Immune Systems | Hemic and Lymphatic Diseases
Abstract
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.
Rights and Permissions
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
10.1182/blood-2017-12-824433
Source
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
Related Resources
Journal/Book/Conference Title
Blood
PubMed ID
29784638
Repository Citation
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.
https://escholarship.umassmed.edu/faculty_pubs/1589
Included in
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
Comments
Full author list omitted for brevity. For the full list of authors, see article.