A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Stritt, Simon; Nurden, Paquita; Turro, Ernest; Greene, Daniel; B. Jansen, Sjoert; K. Westbury, Sarah; Petersen, Romina; J. Astle, William; Marlin, Sandrine; K. Bariana, Tadbir; Kostadima, Myrto; Lentaigne, Claire; Maiwald, Stephanie; Papadia, Sofia; M. Kelly, Anne; C. Stephens, Jonathan; J. Penkett, Christopher; Ashford, Sofie; Tuna, Salih; Austin, Steve; Bakchoul, Tamam; Collins, Peter; Favier, Rémi; P. Lambert, Michele; Mathias, Mary; M. Millar, Carolyn; Mapeta, Rutendo; J. Perry, David; Schulman, Sol; Simeoni, Ilenia; Thys, Chantal; Consortium, BRIDGE-BPD; Gomez, Keith; N. Erber, Wendy; Stirrups, Kathleen; Rendon, Augusto; R. Bradley, John; van Geet, Chris; Lucy Raymond, F.; A. Laffan, Michael; T. Nurden, Alan; Nieswandt, Bernhard; Richardson, Sylvia; Freson, Kathleen; H. Ouwehand, Willem; D. Mumford, Andrew

doi:10.1182/blood-2015-10-675629

Public

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Shared by NobleBlocks on Jun 9, 2016 • 12:00 AM UTC

Authors:

Simon Stritt

Paquita Nurden

Ernest Turro

Abstract

Key Points A gain-of-function variant in DIAPH1 causes macrothrombocytopenia and hearing loss and extends the spectrum of DIAPH1-related disease. Our findings of altered megakaryopoiesis and platelet cytoskeletal regulation highlight a critical role for DIAPH1 in platelet formation.

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