PTGS1 was first reported in relation to autosomal recessive platelet-type bleeding disorder 12 in 2021 (PMID: 32299908). So far, there is only one missense variant has been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. This gene-disease relationship is supported by protein expression A that the PTGS1 protein is preferentially expressed constitutively at high levels in selected cells, including endothelium, monocytes, platelets, renal collecting tubules, and seminal vesicles [PMID: 18657230], protein expression B that the authors showed that the COX-1 protein in platelet lysates from the proband and her homozygous relatives was absent. [PMID: 32299908], and homozygous mutant mice showed reduced platelet aggregation, which was similar to the phenotypes observed in the individuals carrying the homozygous PGTS1 variant [PMID: 8521478]. In summary, there is limited evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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