Scott syndrome with novel compound heterozygous pathogenic variants in <i>ANO6</i> and reduced thrombin generation

Scott syndrome is a recessively inherited, mild to moderate bleeding disorder attributed to variants in <i>ANO6</i>. To date very few cases have been reported worldwide, although we believe that it is under-reported due to a lack of platelet procoagulant activity screening in standard clinical platelet function assays. Here we present a patient with bleeding diathesis with two novel heterozygous variants in <i>ANO6</i>, little to no thrombin generation and reduced phosphatidylserine (PS) exposure which is indicative of Scott syndrome. This study highlights the importance of genetic screening as a first line of diagnosis for Scott syndrome followed by confirmatory thrombin generation studies. This study also provides sufficient support for the case of <i>ANO6 </i>as a definitive clinically relevant gene.