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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense‐mediated decay of GPIIb‐mRNA, and type II Glanzmann's thrombasthenia
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    1. ClingenBaseline 23 Oct 2026
      The patient is a 1‐year‐old female from Morocco

      Case1: Female, 1 year old, ethnicity not specified (patient from Morocco)

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Her brother is asymptomatic. Her first cousin, (male) died as a result of some unknown bleeding disorder

      ParentalGenotype: Parents fully sequenced and

      CasePresentingHPOs: HP:0000967, HP:0000978

      (Petechia, bruising)

      CaseHPOFreeText: Mucocutaneous hemorrhages

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Flow cytometry showed less than 10% of ITGA2B and ITGB3 complexes

      PlateletAggregation: Platelet aggregation in response to ADP, thrombin, collagen and epinephrine was less than 10% of normal platelets and risotcetin induced platelet agglutination was normal

      CasePreviousTesting: Complete analysis of ITGA2B and ITGB3 coding sequences were performed (PCR)

      Gene: ITGA2B

      Variant: NM_000419.3:c.188G>A

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA8603528

      gnomAD: MAF in the European (non-Finnish) population is 0.000008803 http://gnomad.broadinstitute.org/variant/17-42466654-C-T

      CaseInfo Individual Gene:ITGA2B InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous CAiD:CA8603528 PreviousTesting:Full FamilyInfo:Minimal ParentalTesting:FullPhase ProteinExpression:Reported PlateletAggregation:Reported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    onlinelibrary.wiley.com/doi/full/10.1046/j.1538-7836.2003.00204.x