A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling.

Ana Marín-QuilezElena VueltaLorena Díaz-AjenjoCristina Fernández-InfanteIgnacio García-TuñónRocío BenitoVerónica Palma-BarquerosJesús María Hernández-RivasJosé Ramón González-PorrasJosé RiveraJosé Maria Bastida

Published in: Journal of thrombosis and haemostasis : JTH (2022)

This study identifies a novel TPM4 nonsense variant segregating with macrothrombocytopenia and impaired platelet cytoskeletal remodeling and spreading. These findings support the relevant role of TPM4 in thrombopoiesis and further expand our knowledge of TPM4-related thrombocytopenia.

Keyphrases

healthcare
genome wide
atrial fibrillation
gene expression
resting state
functional connectivity