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Article

A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.

British journal of haematology - 1 Dec 2023

Ammeti Daniele, Marzollo Antonio, Gabelli Maria, Zanchetta Melania Eva, Tretti-Parenzan Caterina, Bottega Roberta, Capaci Valeria, Biffi Alessandra, Savoia Anna, Bresolin Silvia, Faleschini Michela

Abstract excerpt

MECOM-associated syndrome (MECOM-AS) is a rare disease characterized by amegakaryocytic thrombocytopenia, progressive bone marrow failure, pancytopenia and radioulnar synostosis with high penetrance. The clinical phenotype may also include finger malformations, cardiac and renal alterations, hearing loss, B-cell deficiency and predisposition to infections. The syndrome, usually diagnosed in the neonatal period...

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Identifiers

PMID: 37610030
DOI: 10.1111/bjh.19023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice.Semantic proximity Read ↗

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MECOM promotes leukemia progression and inhibits mast cell differentiation through functional competition with GATA2Semantic proximity Read ↗

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