P653: Discrepancy between clinical detection and population database representation of TUBB1 p.Phe260Ser

Genetics in Medicine Open 2026 Open access

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Authors: Anna Miller, Benjamin Brett, Bailey M. Hutchison, Valerie Trapp‐Stamborski
DOI: 10.1016/j.gimo.2026.104143
Cited by: 0

Abstract

TUBB1 encodes the major beta-tubulin isoform in megakaryocytes and platelets. Variation in TUBB1 produces a broad phenotypic continuum. Common functional variants influence quantitative platelet traits such as platelet count and size, often acting as modifiers in combination with other genetic or acquired factors. In contrast, rare missense and truncating variants can produce autosomal-dominant TUBB1-related macrothrombocytopenia, a penetrant but clinically mild disorder characterized by reduced platelet count and enlarged circulating platelets.

Fields of Study & Subjects

Platelet Disorders and Treatments Genomics and Rare Diseases Glycogen Storage Diseases and Myoclonus

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104143–104143
Publication date
1 January 2026
Language
EN