Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.

@article{Poggi2017GermlineVI,
  title={Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.},
  author={Marjorie Poggi and Matthias Canault and Marie Favier and Ernest Turro and Paul Saultier and Dorsaf Ghalloussi and V{\'e}ronique Baccini and L{\'e}a Vidal and Anna Mezzapesa and Nadjim Chelghoum and Badreddine Mohand-Oumoussa and C{\'e}line Falaise and R{\'e}mi Favier and Willem H. Ouwehand and Mathieu Fiore and Franck Peiretti and Pierre Emmanuel Morange and No{\'e}mie Saut and Denis Bernot and Andreas Greinacher and Nihr BioResource and Alan T Nurden and Paquita Nurden and Kathleen Freson and David-Alexandre Tr{\'e}gou{\"e}t and Hana Raslova and M C Alessi},
  journal={Haematologica},
  year={2017},
  volume={102 2},
  pages={
          282-294
        }
}
Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six likely pathogenic variants in ETV6, of which five are novel. We observed low repressive activity of all tested ETV6 variants, and variants located in the E26 transformation-specific binding domain… CONTINUE READING

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Germline ETV6 mutations and predisposition to hematological malignancies

  • International Journal of Hematology
  • 2017
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