Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN
| dc.contributor.author | Magoulas, Pilar L. | |
| dc.contributor.author | Corvera, Silvia | |
| dc.contributor.author | Franco, Luis M. | |
| dc.date | 2022-08-11T08:08:23.000 | |
| dc.date.accessioned | 2022-08-23T15:53:28Z | |
| dc.date.available | 2022-08-23T15:53:28Z | |
| dc.date.issued | 2018-05-21 | |
| dc.date.submitted | 2018-07-06 | |
| dc.identifier.citation | <p>Blood. 2018 May 21. pii: blood-2017-12-824433. doi: 10.1182/blood-2017-12-824433. [Epub ahead of print] <a href="https://doi.org/10.1182/blood-2017-12-824433">Link to article on publisher's site</a></p> | |
| dc.identifier.issn | 0006-4971 (Linking) | |
| dc.identifier.doi | 10.1182/blood-2017-12-824433 | |
| dc.identifier.pmid | 29784638 | |
| dc.identifier.uri | http://hdl.handle.net/20.500.14038/29360 | |
| dc.description | <p>Full author list omitted for brevity. For the full list of authors, see article.</p> | |
| dc.description.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. | |
| dc.language.iso | en_US | |
| dc.relation | <p><a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=29784638&dopt=Abstract">Link to Article in PubMed</a></p> | |
| dc.rights | 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. | |
| dc.subject | Cell Biology | |
| dc.subject | Cellular and Molecular Physiology | |
| dc.subject | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | |
| dc.subject | Hematology | |
| dc.subject | Hemic and Immune Systems | |
| dc.subject | Hemic and Lymphatic Diseases | |
| dc.title | Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN | |
| dc.type | Accepted Manuscript | |
| dc.source.journaltitle | Blood | |
| dc.identifier.legacyfulltext | https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=2599&context=faculty_pubs&unstamped=1 | |
| dc.identifier.legacycoverpage | https://escholarship.umassmed.edu/faculty_pubs/1589 | |
| dc.legacy.embargo | 2019-05-21T00:00:00-07:00 | |
| dc.identifier.contextkey | 12450410 | |
| refterms.dateFOA | 2022-08-23T15:53:28Z | |
| html.description.abstract | <p>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.</p> | |
| dc.identifier.submissionpath | faculty_pubs/1589 | |
| dc.contributor.department | UMass Metabolic Network | |
| dc.contributor.department | Program in Molecular Medicine |
