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LYMPHOBLASTIC LEUKEMIA

Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia

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Fig. 1: Genetic investigation of two families with bone marrow failure and acute lymphoblastic leukemia.
Fig. 2: Mutations in PTPN13 decrease protein stability, decrease β-catenin levels and hinder megakaryocyte and erythroid differentiation.

Data availability

The data that supports the findings of this study is available upon request from the corresponding author. The data are not publicly available due to privacy and ethical restrictions.

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Acknowledgements

The authors thank and acknowledge the patients and families for their participation in this study. Also, the authors would like to acknowledge the Care4Rare Research Consortium for identifying the mutation in the index case of Family A. The study was supported by grants from the Canadian Institutes of Health Research funding reference 286737 (YD), McLaughlin Centre Accelerator Grants in Genomic Medicine (YD and SWS), The Regional Government of Castile & Leon funding reference SA077P20 (AHH), and The Spanish Government funding reference PID2020–117692RB-I00 (AHH). The Care4Rare Canada Consortium work was funded by Genome Canada and the Ontario Genomics Institute (OGI147).

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HM performed research, analyzed data, and wrote the paper. DACR performed research, analyzed data, and wrote the paper. YJL performed research, analyzed data, and wrote the paper. SL performed research, analyzed data, and wrote the paper. MM Provided data and samples, reviewed and edited the paper. RE Provided data and samples, reviewed and edited the paper. FAB performed research, provided data and samples, reviewed and edited the paper. SD performed research, analyzed data, and wrote the paper. RNA performed research, analyzed data, and wrote the paper. HL performed research and analyzed data, reviewed the paper. SWS assisted in the design of the study. AHH designed research, oversaw the project, analyzed data and wrote the paper. YD designed research, oversaw the project, analyzed data and wrote the paper.

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Correspondence to Yigal Dror.

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Moshiri, H., Cabrera Riofrío, D.A., Lim, Y.J. et al. Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia. Leukemia 36, 2132–2135 (2022). https://doi.org/10.1038/s41375-022-01610-4

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