A Novel Homozygous Frameshift Mutation in ITGB3 Causes Glanzmann's Thrombasthenia

Acta Haematol. 2022;145(1):78-83. doi: 10.1159/000517050. Epub 2021 Aug 17.

Abstract

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: Family studies; Glanzmann’s thrombasthenia; ITGB3; Integrin αIIbβ3; Mutation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Databases, Nucleic Acid*
  • Exome Sequencing
  • Exons*
  • Female
  • Frameshift Mutation*
  • Homozygote*
  • Humans
  • Integrin beta3*
  • Thrombasthenia / genetics*

Substances

  • ITGB3 protein, human
  • Integrin beta3