Scott syndrome with novel compound heterozygous pathogenic variants in ANO6 and reduced thrombin generation

Puntos clave

• This research aims to investigate the genetic basis of Scott syndrome, focusing on novel ANO6 variants and their effect on thrombin generation.
• Genetic sequencing to identify pathogenic variants in the ANO6 gene.
• Analysis of thrombin generation to assess coagulopathy severity.
• Comparative analysis with known SCOTTI variants.
• Identification of novel compound heterozygous pathogenic variants in ANO6.
• Observed reduction in thrombin generation compared to normal ranges.
• Correlation found between genetic variants and severity of bleeding episodes.