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    A naturally occurring Tyr143HisαIIb mutation abolishes αIIbβ3 function for soluble ligands but retains its ability for mediating cell adhesion and clot retraction: comparison with other mutations causing ligand-binding defects
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    1. ClingenBaseline 23 Oct 2026
      Patient Osaka-12

      Case1: Female, 21 years old, Japanese (Named Osaka-12 in this study)

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: The substitution was inherited from her father. The molecular genetic defect inherited from her mother remains determined.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Moderate mucocutaneous bleeding in childhood

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Flow cytometry showed revealed a significant reduction in the expression of αIIbβ3 on Osaka-12 platelets

      PlateletAggregation: Absent platelet aggregation in response to ADP, epinephrine, and collagen but a normal response to ristocetin

      CasePreviousTesting: To identify the molecular genetic defect for the proband of interest, all coding regions of ITGA2B and ITGB3 cDNA amplified by RT-PCR were analyzed

      Gene: ITGA2B

      Variant: NM_000419.3:c.520T>C (p.Tyr174His)

      LegacyVariant: (p.Tyr143His)

      ClinVar: N/A

      CAiD: CA399805805

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous PreviousTesting:Full InheritancePattern:AutosomalRecessive ParentalTesting:PartialPhase ProteinExpression:Reported PlateletAggregation:Reported CAiD:CA399805805 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    ashpublications.org/blood/article/101/9/3485/105862/A-naturally-occurring-Tyr143His-IIb-mutation