Case1: (Patient TK) Male, 5 years old, Japanese

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: The (p.His280Pro) mutation was inherited from his mother and the (p.Gly579Ser) mutation was inherited from his father

CasePresentingHPOs: N/A

CaseHPOFreeText: All patients (3 in this study) had suffered from a bleeding diathesis since early childhood

CaseNotHPOs: NA

ProteinExpression: The surface expression of the alphaIIbbeta complex on the patients' platelets was quantitated by flow cytometry. The level of antigen expression for TK was 19.9%

Platelet Aggregation: Absent platelet aggregation in response to ADP, collagen, and epinephrine, but normal platelet agglutination in response to ristocetin

CasePreviousTesting: The nucleotide sequences of the aIIb and b3 coding regions were determined by direct sequencing of RT-PCR products from platelet RNA

Gene: ITGB3

Variant: NM_000212.2:c.917A>C (p.His206Pro) and NM_000212.2:c.1813G>A (p.Gly605Ser) (See Table 1 to see zygosity statement, "double heterozygote for both variants")

LegacyVariant: (p.His280Pro) and (p.Gly579Ser)

ClinVar: N/A

CAiD: CA291224999 and CA291227621

gnomAD MAF in the East Asian population for (p.His206Pro) is 0.00005437 https://gnomad.broadinstitute.org/variant/17-45364575-A-C and MAF in East Asian population for (p.Gly605Ser) is 0.00005437 https://gnomad.broadinstitute.org/variant/17-45376796-G-A