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    Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia
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    1. ClingenBaseline 26 Oct 2026
      Patient 3

      Case3: Male, 10 years old, Korean

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: Figure 1 shows haplotype analysis

      CasePresentingHPOs: HP:0001342

      (Cerebral hemorrhage)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Flow cytometry analyses revealed decreased expression at 7.2%/5.0% of the normal amount of CD41/CD61

      PlateletAggregation: Platelet aggregation tests were performed to evaluate responses to ADP, collagen, epinephrine, and ristocetin agonists

      CasePreviousTesting: Polymerase chain reaction for all exons ofITGA2Band/orITGB3were performed using primers. Sequence analysis was performed with reference to M_000419.3 andNP_000410.2 forITGA2Band NM_000212.2 and NP_000203.2 for ITGB3.

      Gene: ITGA2B

      Variant: NM_000419.3:c.2333A>C (p.Gln778Pro) and NM_000419.3:c.975del

      LegacyVariant: N/A

      ClinVar: 225393

      CAiD: CA290947544 and CA915940385

      gnomAD: MAF in the East Asian population is 0.0001087 http://gnomad.broadinstitute.org/variant/17-42453691-T-G

      CaseInfo Individual Gene:ITGA2B InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:SingleNucleotideDeletion Zygosity:CompoundHeterozygous ClinVarID:225393 CAiD:CA290947544 CAiD:CA915940385 PreviousTesting:Full ParentalTesting:FullPhase ProteinExpression:Reported PlateletAggregation:Reported Mutation:Missense inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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