Case19: (GT53) Gender, age and ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Has a sister who does not have either of the 2 mutations (normal)

ParentalGenotype: Father: Does not have the Asp139His mutation but is heterozygous for the Tyr141Cys mutation. Mother: Heterozygous for the Asp139His mutation and is normal or does not harbor the Tyr141Cys mutation

CasePresentingHPOs: N/A

CaseHPOFreeText: Inclusion criteria were patients with a history of mucocutaneous bleeding (Figure 1 shows a bar diagram of all the clinical manifestations in the patient cohort in this article)

CaseNotHPOs: N/A

ProteinExpression: Platelet receptor alphaIIbbeta3 protein was analyzed by flow cytometry followed by western blotting

Platelet Aggregation: Inclusion criteria for probands was absent or reduced platelet aggregation with agonists such as ADP, adrenaline, arachidonic acid, and collagen (no mention of ristocetin here-- this article does not tell us the specific aggregation for each proband in the paper)

CasePreviousTesting: For mutation analysis of ITGA2B and ITGB3 genes, DNA extraction from whole blood, PCR, heteroduplex PCR followed by CSGE and DNA sequencing were performed. All 30 exons of ITGA2B and 15 exons of ITGB3, as well as their promoters, were analyzed by CSGE following heteroduplex PCR.

Gene: ITGB3

Variant: NG_008332.2:g.35655G>C (p.Asp139His) and NM_000212.2:c.422A>G (p.Tyr141Cys)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA400021843 and CA40002188, respectively as shown above

gnomAD N/A