Skip to Main content Skip to Navigation
Journal articles

A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia

Abstract : Background - Macrothrombocytopenia (MTP) is a rare but enigmatic complication of Glanzmann thrombasthenia (GT), an inherited bleeding disorder caused by the absence of platelet aggregation due to deficiencies of the αIIbβ3 integrin. Objectives - We report a family with type I GT and a prolonged bleeding time but unusually associated with congenital mild thrombocytopenia and platelet size heterogeneity with giant forms. Methods and results - Sanger sequencing of DNA from the propositus identified 2 heterozygous ITGB3 gene mutations: p.P189S and p.C210S both of which prevent αIIbβ3 expression and are causative of GT but without explaining the presence of enlarged platelets. High-throughput screening led to the detection of a predicted disease-causing heterozygous mutation in the TUBB1 gene: p.G146R, encoding β1-tubulin, a component of the platelet cytoskeleton and a gene where mutations are a known cause of MTP. Conclusions - Family screening confirmed that this rare phenotype results from oligogenic inheritance while suggesting that the GT phenotype dominates clinically.
Complete list of metadatas

https://hal-univ-rennes1.archives-ouvertes.fr/hal-02304995
Contributor : Laurent Jonchère <>
Submitted on : Thursday, October 3, 2019 - 4:15:44 PM
Last modification on : Friday, January 24, 2020 - 12:01:18 PM

Identifiers

Citation

Benoit Guillet, Sophie Bayart, Xavier Pillois, Paquita Nurden, Jacques P Caen, et al.. A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia. Journal of Thrombosis and Haemostasis, Wiley, 2019, 17 (12), pp.2211-2215. ⟨10.1111/jth.14622⟩. ⟨hal-02304995⟩

Share

Metrics

Record views

25