A novel ITGA2B double cytosine frameshift variant (c.1986_1987insCC) leads to Glanzmann's thrombasthenia in a cat.

ABSTRACT:

Background

Glanzmann's thrombasthenia (GT) is a congenital platelet disorder affecting approximately 1:1 000 000 people globally and characterized by impaired platelet aggregation and clot retraction. Autosomal recessive, loss-of-function, variants in ITGA2B or ITGB3 of the αIIbβ3 receptor cause the disease in humans. A cat affected by Glanzmann's and macrothrombocytopenia was presented to the UC Davis VMTH.

Hypothesis/objectives

Severe thrombopathia in this cat has an underlying genetic etiology.

Animals

A single affected patient, 2 age-matched clinically healthy controls, and a geriatric population (n = 20) of normal cats.

Methods

Physical examination and clinical pathology tests were performed on the patient. Flow cytometry and platelet aggregometry analyses

SUBMITTER: Rivas VN 

PROVIDER: S-EPMC11099703 | biostudies-literature | 2024 May-Jun

REPOSITORIES: biostudies-literature