Congenital Aspirin-like Defect As a Result of Autosomal Recessive Variants in PTGS1

In conclusion, we for the first time report autosomal recessive inheritance of variants in PTGS1 as cause for a rare inherited bleeding disorder. The effect of the mutation are selective loss of expression of PTGS1 within platelets and decreased enzyme function. Two previous reports demonstrated autosomal dominant inheritance. The first demonstrated autosomal dominant inheritance of variants in PTGS1 as modifier in a well characterized family with haemophilia A and platelet function disorder (Nance et al JTH 2016). The second reported rare heterozygous variants in PTGS1 in two cases with a bleeding tendency which was not further specified in the report (Bastida et al Haematologica 2018).DisclosuresLaffan: Pfizer: Honoraria; Roche: Consultancy, Speakers Bureau.

Source: Blood - November 21, 2018 Category: Hematology Authors: Sivapalaratnam, S., Melissa, H., Lentaigne, C., Chan, M., Crescente, M., Allan, H., Wedderburn, K., Hanif, M., Turro, E., Hart, D. P., Freson, K., Downes, K., Bioresource, N., Ouwehand, W., Laffan, M., Warner, T. Tags: 311. Disorders of Platelet Number or Function: Poster I Source Type: research