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February 26, 2026HaematologicaOpen Access

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

Amna Ahmed Samantha J. Montague Hrushikesh Vyas Jayna J. Mistry Natasha J. Pavey Sophie R.M. Smith Liam Griffith Isobel Clothier Roseanne Hudson Emma L. Faulkner Richard J. Buka P Bignell Carl Fratter Kathryn Marshall Ben Bailiff Natalie S. Poulter B de Laat Dana Huskens Gillian Lowe Steven G. Thomas Neil V. Morgan

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Key Points

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.

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Implication

Case uncovers novel genetic variants affecting thrombin generation in Scott syndrome, indicating new targets for study.

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Cite This Study

Ahmed et al. (2026) studied this question.

synapsesocial.com/papers/69a3d747ec16d51705d2dcdf https://doi.org/10.3324/haematol.2025.300111

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