A gain of function variant in RGS18 candidate for a familial mild bleeding syndrome

• Published in: Journal of thrombosis and haemostasis Vol. 23; no. 1; pp. 314 - 320
• Main Authors: Vayne, Caroline, Roux, Maguelonne, Gruel, Yves, Poggi, Marjorie, Pouplard, Claire, Peiretti, Franck, Trégouët, David-Alexandre, Nurden, Paquita, Alessi, Marie-Christine
• Format: Journal Article
• Language: English
• Published: England Elsevier Inc 01.01.2025; Wiley
• Subjects: Blood Platelet Disorders - genetics; blood platelets; Blood Platelets - metabolism; Exome Sequencing; Gain of Function Mutation; Genetic Predisposition to Disease; GTP-binding proteins; hemorrhage; Hemorrhage - genetics; Heredity; Heterozygote; Humans; Life Sciences; Pedigree; Phenotype; Platelet Aggregation; Platelet Function Tests; RGS Proteins - genetics; RGS Proteins - metabolism; Santé publique et épidémiologie; Signal Transduction; Syndrome; blood platelets; exome sequencing; GTP-binding proteins; platelet function tests; hemorrhage; GTP-Binding Proteins; Exome Sequencing; Hemorrhage; Blood Platelets; Platelet Function Tests

Inherited platelet diseases are bleeding disorders characterized by either defects in platelet count or platelet function, the latter being less common and very heterogeneous. Numerous gene variants associated with abnormal receptors, granules, and signaling pathways have been reported. Despite sign...