Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.

ABSTRACT: Congenital amegakaryocytic thrombocytopenia (CAMT) is an inherited disorder characterized at birth by thrombocytopenia with reduced megakaryocytes, which evolves into generalized bone marrow aplasia during childhood. Although CAMT is genetically heterogeneous, mutations of MPL, the gene encoding for the receptor of thrombopoietin (THPO), are the only known disease-causing alterations. We identified a family with three children affected with CAMT caused by a homozygous mutation (p.R119C) of the THPO gene. Functional studies showed that p.R119C affects not only ability of the cytokine to stimulate MPL but also its release, which is consistent with the relatively low serum THPO levels measured in patients. In all the three affected children, treatment with the THPO-mimetic romip

SUBMITTER: Pecci A 

PROVIDER: S-EPMC5760853 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature