Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome.

doi:10.1016/j.jtha.2024.02.021

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Article

Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome.

Journal of thrombosis and haemostasis : JTH - 1 Aug 2024

Montague Samantha J, Price Joshua, Pennycott Katherine, Pavey Natasha J, Martin Eleyna M, Thirlwell Isaac, Kemble Samuel, Monteiro Catarina, Redmond-Motteram Lily, Lawson Natalie, Reynolds Katherine, Fratter Carl, Bignell Patricia, Groenheide Anouk, Huskens Dana, de Laat Bas, Pike Jeremy A, Poulter Natalie S, Thomas Steven G, Lowe Gillian C, Lancashire Jonathan, Harrison Paul, Morgan Neil V

Abstract excerpt

BACKGROUND: Scott syndrome is a mild platelet-type bleeding disorder, first described in 1979, with only 3 unrelated families identified through defective phosphatidylserine (PS) exposure and confirmed by sequencing. The syndrome is distinguished by impaired surface exposure of procoagulant PS on platelets after stimulation. To date, platelet function and thrombin generation in this condition have not been...

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Identifiers

PMID: 38492852
DOI: 10.1016/j.jtha.2024.02.021

Genes

ANO6

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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