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University of Massachusetts Medical School Faculty Publications

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

2018

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Full-Text Articles in Cell Biology

Syndromic Congenital Myelofibrosis Associated With A Loss-Of-Function Variant In Rbsn, Pilar L. Magoulas, Silvia Corvera, Luis M. Franco May 2018

Syndromic Congenital Myelofibrosis Associated With A Loss-Of-Function Variant In Rbsn, Pilar L. Magoulas, Silvia Corvera, Luis M. Franco

University of Massachusetts Medical School Faculty Publications

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 ...