PTGS1 gene variations associated with bleeding and platelet dysfunction.

Keywords: Bleeding; COX-1; inherited platelet dysfunction EN Bleeding COX-1 inherited platelet dysfunction 710 716 7 06/01/21 20210701 NES 210701 PTGS1 Gene and Cyclooxygenase-1: Structure and Function Prostaglandin-endoperoxide synthase 1 ( I PTGS1 i ) (OMIM: 176805; Ensemble: ENSG00000095303) is a ~ 22kb gene with 11 coding exons mapped at chromosome 9q32-q33.3, which encodes the cyclooxygenase-1 [COX-1] (also known as prostaglandin G/H synthase 1) [[1]].The canonical COX-1 (Transcript ENST00000362012.7; UniProtKB-P23219) is a ~ 70kDa protein of the myeloperoxidase superfamily comprising 599 amino acid [aa]. COX-1 deficiency causes platelet dysfunction and reduced I in vivo i thrombosis in mice models In humans, congenital COX-1 deficiency causes platelet dysfunction and bleeding (Bleeding disorder platelet type 12 [BDPLT12]). -Normal platelet levels of COX-1 protein.</td><td>-Compound heterozygous for: <bold>F8</bold>: c.5096A T [p.Tyr1699Pro] <bold>COX-1</bold>:SNP c.50 C T [Pro17-Leu]</td></tr><tr><td>[<xref ref-type="bibr" rid="bibr42">42</xref>]</td><td>-Patient with severe bleeding.</td><td>-Reduced TXB2 levels in plasma.</td><td>-Compound heterozygous for: <bold>COX-1</bold>: Rare variant c.337 C T [p.Arg113Cys]. [Extracted from the article]