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  2. reader.elsevier.com reader.elsevier.com
    Acquired Antibodies to αIIbβ3 in Glanzmann Thrombasthenia: From Transfusion and Pregnancy to Bone Marrow Transplants and Beyond
    1
    1. ClingenBaseline 21 Oct 2026
      1.

      Case1: Male, now deceased

      DiseaseAssertion: Glanzmann thrombasthenia type I

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0002239

      (Gastrointestinal bleeding)

      CaseHPOFreeText: Severe bleeding when young

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: Minimal information, not specific at all

      CasePreviousTesting: Sanger sequencing identified disease-causing variants in 18 out of 20 patients (Probands 6 and 14 excluded) with istoantibodies to αIIbβ3. The mutations were evenly distributed between ITGB3 and ITGA2B.

      Gene: ITGA2B

      Variant: NM_000419.3:c.1413C>G (p.Tyr471Ter) Codon change confirmed from PMID: 20492470 and NM_000419.3:c.1882C>T (p.Arg628Ter)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA290950376 and CA399801310

      gnomAD: MAF in European non Finnish population 0.000008791 http://gnomad.broadinstitute.org/variant/17-42457994-G-C and MAF in Latino population 0.00003983 http://gnomad.broadinstitute.org/variant/17-42456075-G-A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:NoZygosityAssertion CAiD:CA290950376 CAiD:CA399801310 PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:MinimalInformation inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S0887796318300373
  3. Local file Local file
    Expanding the Mutation Spectrum Affecting &#x003B1;IIb&#x003B2;3 Integrin in Glanzmann Thrombasthenia: Screening of the <i>ITGA2B</i> and <i>ITGB3</i> Genes in a Large International Cohort
    1
    1. ClingenBaseline 21 Oct 2026

      Supplementary Table S1 & S2 Proband and Variant Information:

      Case22: GT25, Male, 81, French

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0002239

      Gastrointestinal bleeding

      CaseHPOFreeText: Life-long bleeding disorder

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Flow cytometry showed <5% expression of αIIbβ3 (See Supplementary Table 1)

      PlateletAggregation: Absent platelet aggregation (See Supplementary Table 1)

      CasePreviousTesting: Sanger sequencing of ITGA2B and ITGB3

      Gene: ITGA2B

      Variant: NM_000419.3:c.1413C>G (p.Tyr471Ter) and NM_000419.3:c.1882C>T (p.Arg628Ter)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA290950376 and CA399801310

      gnomAD: MAF in the European (non-Finnish) population 0.000008791 http://gnomad.broadinstitute.org/variant/17-42457994-G-C and MAF in Latino population is 0.00003983 http://gnomad.broadinstitute.org/variant/17-42456075-G-A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:CompoundHeterozygous CAiD:CA290950376 CAiD:CA399801310 PreviousTesting:Full ProteinExpression:Reported ProteinExpression:MinimalInformation SupplementalData inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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  4. pdfs.semanticscholar.org pdfs.semanticscholar.org
    Nonsense Mutation in Exon-19 of GPIIb Associated with Thrombasthenic Phenotype. Failure of GPIIb(&Delta;597-1008) to Form Stable Complexes with GPIIIa
    1
    1. ClingenBaseline 21 Oct 2026
      The patient

      Case1: Male, 7 years old, ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: See pedigree Fig 5

      ParentalGenotype: Parents heterozygous for the mutation proband has

      CasePresentingHPOs:

      (Petechia, bruising

      CaseHPOFreeText: Mucocutaneous hemorrhages

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: There was a lack of platelet surface expression of the GPIIb-IIIa complex as shown by Western blotting

      PlateletAggregation: Platelets fail to aggregate spontaneously or in response to agonists, although they agglutinate in response to ristocetin

      CasePreviousTesting: Screening of mutations in both ITGA2B and ITGB3 was carried out by single stranded conformational polymorphism (SSCP) analysis

      Gene: ITGA2B

      Variant: NM_000419.3:c.1882C>T (p.Arg628Ter)

      LegacyVariant: (p.Arg597Ter)

      ClinVar: N/A

      CAiD: CA399801310

      gnomAD: MAF in the Latino population is 0.00003983 http://gnomad.broadinstitute.org/variant/17-42456075-G-A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:Homozygous PreviousTesting:Full ParentalTesting:FullPhase ProteinExpression:Reported PlateletAggregation:Reported CAiD:CA399801310 FamilyInfo inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    pdfs.semanticscholar.org/5474/4065cccc13940442423542836c521b0758bf.pdf