@article{Faleschini_Papa_Morel-Kopp_Marconi_Giangregorio_Melazzini_Bozzi_Seri_Noris_Pecci_Savoia_Bottega_2022, place={Pavia, Italy}, title={Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel <I>GFI1B</I> germline mutation}, volume={107}, url={https://haematologica.org/article/view/haematol.2020.267328}, DOI={10.3324/haematol.2020.267328}, abstractNote={<p>GFI1B is a transcription factor essential for the regulation of erythropoiesis and megakaryopoiesis, and pathogenic variants have been associated with thrombocytopenia and bleeding. Analysing thrombocytopenic families by whole exome sequencing, we identified a novel <em>GFI1B</em> variant (c.648+5G&gt;A), which causes exon 9 skipping and overexpression of a shorter p32 isoform. We report the clinical data of our patients and critically review the phenotype observed in individuals with different <em>GFI1B</em> variants leading to the same effect on the p32 expression. Since p32 is increased in acute and chronic leukemia cells, we tested the expression level of genes playing a role in various type of cancers, including hematological tumors and found that they are significantly dysregulated, suggesting a potential role for <em>GFI1B</em> in carcinogenesis regulation. Increasing the detection of individuals with <em>GFI1B</em> variants will allow us to better characterize this rare disease and determine whether it is associated with an increased risk of developing malignancies.</p&gt;}, number={1}, journal={Haematologica}, author={Faleschini, Michela and Papa, Nicole and Morel-Kopp, Marie-Christine and Marconi, Caterina and Giangregorio, Tania and Melazzini, Federica and Bozzi, Valeria and Seri, Marco and Noris, Patrizia and Pecci, Alessandro and Savoia, Anna and Bottega, Roberta}, year={2022}, month={Jan.}, pages={260-267} }