Heterozygous nonsense FLI1 p.Met100∗ variant results in thrombocytopenia and increased erythroid gene expression
Collectively, our findings suggest that FLI1 p.Met100∗ impairs megakaryocyte maturation through a dominant-negative manner, potentially contributing to thrombocytopenia by promoting erythroid features at the expense of proper megakaryocytic development.
Authors
- Arie J. Hoogendijk (ORCID: https://orcid.org/0000-0002-3082-2289)
- Frank W.G. Leebeek (ORCID: https://orcid.org/0000-0001-5677-1371)
- Nynke Gillemans
- Rolf T. Urbanus (ORCID: https://orcid.org/0000-0002-1601-9393)
- Alexander Janßen (ORCID: https://orcid.org/0000-0003-0719-0831)
- Jeroen C.J. Eikenboom (ORCID: https://orcid.org/0000-0002-3268-5759)
- Ron A. A. Mathôt (ORCID: https://orcid.org/0000-0001-8401-0879)
- Iris van Moort (ORCID: https://orcid.org/0000-0002-0248-4710)
- Carmen van der Zwaan
- Hester F. Lingsma (ORCID: https://orcid.org/0000-0003-2063-9533)
- Masja de Haas (ORCID: https://orcid.org/0000-0002-7044-0525)
- Simone H. Reitsma (ORCID: https://orcid.org/0000-0003-4386-5728)
- Nicole N. van der Wel (ORCID: https://orcid.org/0000-0001-6392-3417)
- Samantha C. Gouw (ORCID: https://orcid.org/0000-0002-1957-4122)
- Elise J. Huisman (ORCID: https://orcid.org/0000-0002-0700-2194)
- Sebastiaan Laan (ORCID: https://orcid.org/0000-0001-9206-8712)
- Marjon H. Cnossen (ORCID: https://orcid.org/0000-0003-1557-2995)
- Ruben Bierings (ORCID: https://orcid.org/0000-0002-1205-9689)
- Rieke van der Graaf (ORCID: https://orcid.org/0000-0003-4907-7044)
- Annelien L. Bredenoord (ORCID: https://orcid.org/0000-0002-7542-8963)
- Ryanne A. Arisz (ORCID: https://orcid.org/0000-0003-2113-9530)
- Sjoerd F. Koopman (ORCID: https://orcid.org/0000-0002-4536-2692)
- Moniek P.M. de Maat (ORCID: https://orcid.org/0000-0001-7749-334X)
- Tine M.H.J. Goedhart (ORCID: https://orcid.org/0000-0002-8919-8118)
- Emile van den Akker (ORCID: https://orcid.org/0000-0002-2596-0046)
- Minka Živkovic (ORCID: https://orcid.org/0000-0003-4545-7939)
- Michael E. Cloesmeijer (ORCID: https://orcid.org/0000-0002-2810-1570)
- Maartje van den Biggelaar (ORCID: https://orcid.org/0000-0001-6970-5496)
- Sander W. Meijer
- Laura H. Bukkems (ORCID: https://orcid.org/0000-0001-7967-1023)
- Karina Meijer (ORCID: https://orcid.org/0000-0001-9447-0465)
- Sjaak Philipsen (ORCID: https://orcid.org/0000-0002-3690-1201)
- Jan Voorberg (ORCID: https://orcid.org/0000-0003-4585-2621)
- Wala Al Arashi (ORCID: https://orcid.org/0000-0003-4218-8550)
- Hans Janßen (ORCID: https://orcid.org/0000-0002-8315-3955)
- Karin Fijnvandraat (ORCID: https://orcid.org/0000-0003-0904-4360)
- Lieke Baas (ORCID: https://orcid.org/0000-0001-6032-2712)
- Wilfred F. J. van IJcken (ORCID: https://orcid.org/0000-0002-0421-8301)
- Arthur Flohr Svendsen (ORCID: https://orcid.org/0000-0002-6224-2334)
- Caroline Mussert (ORCID: https://orcid.org/0009-0009-8970-9473)
- Diaz M. Prameyllawati
- Huan Zhang (ORCID: https://orcid.org/0000-0001-9339-7999)
- L. Romanǒ (ORCID: https://orcid.org/0000-0003-0348-658X)
- Michael Brands (ORCID: https://orcid.org/0000-0002-9106-3327)
- Roger Schutgens
- Marten Hansen (ORCID: https://orcid.org/0000-0003-1379-2759)
- Jessica Del Castillo Alferez
- Shannon van Hoorn
- Roel van Rhijn
Institutions
- Dutch Cancer Society (NL)
- Erasmus MC (NL)
- Sanquin (NL)
- Erasmus MC - Sophia Children’s Hospital (NL)
- Amsterdam University Medical Centers (NL)
- University of Amsterdam (NL)
Publication Details
- Journal
- Research and Practice in Thrombosis and Haemostasis
- Published
- 2025-11-01
- DOI
- https://doi.org/10.1016/j.rpth.2025.103258
- Primary Topic
- Platelet Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- ZonMw
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek