A novel Ser123Pro substitution in the MIDAS domain of integrin 3 associated with variant Glanzmann's thrombasthenia in an Indian patient

Haematologica. 2004 Dec;89(12):1529-30.

Abstract

We report a novel 465T-->C (S123P) mutation in exon 3 of the GPIIIalpha gene in a patient with type III or variant Glanzmann's thrombasthenia (GT). Though this mutation did not affect fibrinogen binding to GPIIb-IIIalpha in activated platelets, it interfered with the platelet aggregation in a manner similar to GT.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Substitution*
  • Child
  • Consanguinity
  • Exons / genetics
  • Female
  • Fibrinogen / metabolism
  • Flow Cytometry
  • Humans
  • India
  • Integrin beta3 / chemistry
  • Integrin beta3 / genetics*
  • Mutation, Missense*
  • Platelet Aggregation
  • Point Mutation*
  • Protein Binding
  • Protein Structure, Tertiary / genetics
  • Thrombasthenia / genetics*

Substances

  • Integrin beta3
  • Fibrinogen