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    A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis

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    Authors
    Shah, Rikin K.
    Munson, Mary
    Wierenga, Klaas J.
    Pokala, Hanumantha R.
    Newburger, Peter E.
    Crawford, David
    UMass Chan Affiliations
    School of Medicine
    Senior Scholars Program
    Department of Pediatrics, Division of Hematology/Oncology
    Department of Biochemistry and Molecular Pharmacology
    Document Type
    Journal Article
    Publication Date
    2017-04-28
    Keywords
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities
    Hematology
    Hemic and Lymphatic Diseases
    Oncology
    Pediatrics
    
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    Link to Full Text
    https://doi.org/10.1002/pbc.26571
    Abstract
    VPS45-associated severe congenital neutropenia (SCN) is a rare disorder characterized by life-threating infections, neutropenia, neutrophil and platelet dysfunction, poor response to filgrastim, and myelofibrosis with extramedullary hematopoiesis. We present a patient with SCN due to a homozygous c.1403C>T (p.P468L) mutation in VPS45, critical regulator of SNARE-dependent membrane fusion. Structural modeling indicates that P468, like the T224 and E238 residues affected by previously reported mutations, cluster in a VPS45 "hinge" region, indicating its critical role in membrane fusion and VPS45-associated SCN. Bone marrow transplantation, complicated by early graft failure rescued with stem cell boost, led to resolution of the hematopoietic phenotype.
    Source

    Pediatr Blood Cancer. 2017 Apr 28. doi: 10.1002/pbc.26571. Link to article on publisher's site

    DOI
    10.1002/pbc.26571
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/43549
    PubMed ID
    28453180
    Related Resources

    Link to Article in PubMed

    ae974a485f413a2113503eed53cd6c53
    10.1002/pbc.26571
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