αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum.

ABSTRACT:

Background

Rare pathogenic variants in either the ITGA2B or ITGB3 genes have been linked to autosomal dominant macrothrombocytopenia associated with abnormal platelet production and function, deserving the designation of Glanzmann Thrombasthenia-Like Syndrome (GTLS) or ITGA2B/ITGB3-related thrombocytopenia.

Objectives

To describe a series of patients with familial macrothrombocytopenia and decreased expression of αIIbβ3 integrin due to defects in the ITGA2B or ITGB3 genes.

Methods

We reviewed the clinical and laboratory records of 10 Portuguese families with GTLS (33 patients and 11 unaffected relatives), including the functional and genetic defects.

Results

Patients had absent to moderate bleeding, macrothrombocytopenia, low αIIbβ3 expression, impaired platele

SUBMITTER: Morais S 

PROVIDER: S-EPMC7717987 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature