Case1: Patient 1, Male, 6 years old

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Affected brother is Patient 2

ParentalGenotype: Mother and father revealed heterozygosity for c.1878G>C mutation. (Parents are consanguineous)

CasePresentingHPOs: HP:0000967, HP:0000421, HP:0000225

(Petechiae, epistaxis, gingival bleeding)

CaseHPOFreeText: Hematomas,

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry analysis showed that there was no surface expression of GPIIb/IIIa detectable on patient 1's platelets, indicating a lack of platelet GPIIb/IIIa expression

PlateletAggregation: All patients' platelets showed severely reduced platelet aggregation after stimulation with collagen and ADP in contrast to the normal range (See Table 1). Stimulation with epinephrine and arachidonic acid also demonstrated decreased platelet aggregation. In contrast, ristocetin-induced platelet aggregation was within normal range for patient 1

CasePreviousTesting: Sequenced ITGA2B and ITGB3 genes from one patient of each family (Patient 2 and 3) and Patient 1 and 4 were screened for the identified mutation in the corresponding family.

Gene: ITGA2B

Variant: NM_000419.3:c.1878G>C (p.Gln626His)

LegacyVariant: N/A

ClinVar: 2903

CAiD: CA115852

gnomAD: N/A