Article
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
Haematologica - 1 Feb 2017
Poggi Marjorie, Canault Matthias, Favier Marie, Turro Ernest, Saultier Paul, Ghalloussi Dorsaf, Baccini Veronique, Vidal Lea, Mezzapesa Anna, Chelghoum Nadjim, Mohand-Oumoussa Badreddine, Falaise Céline, Favier Rémi, Ouwehand Willem H, Fiore Mathieu, Peiretti Franck, Morange Pierre Emmanuel, Saut Noémie, Bernot Denis, Greinacher Andreas, BioResource Nihr, Nurden Alan T, Nurden Paquita, Freson Kathleen, Trégouët David-Alexandre, Raslova Hana, Alessi Marie-Christine
Abstract excerpt
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...
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