The objective of this study was to elucidate the molecular characteristics of a Chinese family with Glanzmann’s thrombasthenia (GT). The proband was diagnosed with GT based on clinical manifestations, platelet aggregation, and the expression of CD41 and CD61 in platelets. Whole-exome and Sanger sequencing were used to detect genetic defects related to GT in the proband and the family of the pedigree. Whole-exome sequencing showed a c.1784–1802delinsGTCACA, p. S595Cfs*70 homozygous mutation in exon 11 of the ITGB3 gene in the proband. Heterozygous mutations were found in the proband’s parents, grandmother, uncle, aunt, and younger brother. This novel p. S595Cfs*70 ITGB3 gene mutation is not present in the 1000 Genomes and ExAC databases.

Keywords:
Glanzmann’s thrombasthenia, ITGB3, Integrin αIIbβ3, Mutation, Family studies
© 2021 S. Karger AG, Basel
2021
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