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    Dominant inheritance of a novel integrin β3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families
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    1. ClingenBaseline 27 Oct 2026
      The proband, a 35-year old woman from southern Italy,

      Case1: Female, 35 years old, Italian

      DiseaseAssertion: Macrothromocytopenia

      FamilyInfo: See Supp. Fig S1 for pedigree

      ParentalGenotype: See Supp. Fig S1 for pedigree

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Life-long moderate to severe bleeding, mainly mucocutaneous

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: No abnormalities in blood clotting

      ProteinExpression: Flow cytometry showed mild reduction of surface αIb β3

      PlateletAggregation: Impaired platelet aggregation to physiological agonists but not to ristocetin,

      CasePreviousTesting: ITGA2B and ITGB3 were amplified and sequenced

      Gene: ITBG3

      Variant: NM_000212.2:c.2134+1G>C

      LegacyVariant: N/A

      ClinVar: 50228

      CAiD: CA143711

      gnomAD: N/A

      CaseInfo Individual InheritancePattern:AutosomalDominant DiseaseEntity:Macrothrombocytopenia Mutation:Intronic Zygosity:NoZygosityAssertion ClinVarID:502280 PreviousTesting:Full FamilyInfo ProteinExpression:Reported PlateletAggregation:Reported ClinVarID:50228 ParentalTesting:FullPhase inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC2675678/