Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN
Document TypeAccepted Manuscript
Cellular and Molecular Physiology
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Hemic and Immune Systems
Hemic and Lymphatic Diseases
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AbstractThe 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.
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
Permanent Link to this Itemhttp://hdl.handle.net/20.500.14038/29360
Full author list omitted for brevity. For the full list of authors, see article.
RightsCopyright © 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.