Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia
Naomi Cornish, M. Riyaad Aungraheeta, Lucy Fitzgibbon, Kate Burley, Dominic Alibhai, Janine Collins, Daniel Greene, Kate Downes, NIHR BioResource, Sarah K. Westbury, Ernest Turro, Andrew Mumford
Abstract
Key Points We report rare monoallelic variants of THPO that alter intracellular trafficking and diminish thrombopoietin secretion. Affected cases have autosomal-dominant thrombocytopenia but no other hematological features.
Topics & Concepts
Loss functionFunction (biology)GeneticsBiologyMedicinePhenotypeGenePlatelet Disorders and TreatmentsBlood groups and transfusionCell Adhesion Molecules Research