Case1: Female, 35 years old, Japanese

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Pedigree found in Fig 4

ParentalGenotype: Mother: heterozygote for (p.Ile330Asn) and Father: heterozygote for (p.His306Pro)

CasePresentingHPOs: N/A

CaseHPOFreeText: Profuse bleeding at times

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: The surface expression of αIIbβ3 complex on the patient's platelets was not observed in the flow cytometric analysis used to detect the αIIbβ3 complex (Fig. 1A).

PlateletAggregation: No aggregation of patient's platelets in response to ADP and collagen but normal aggregation occurred in response to ristocetin

CasePreviousTesting: Nucleotide sequences of beta3 cDNA and beta3 genomic DNA were analyzed by the dye terminator cycle sequencing method, in addition the nucleotide sequences of alphaIIbeta cDNA were anlso analyzed based on the published sequence of alphaIIbeta

Gene: ITGB3

Variant: NM_000212.2:c.989T>A (p.Ile330Asn) and NM_000212.2:c.917A>C (p.His306Pro)

LegacyVariant: (p.Ile304Asn) and (p.His280Pro)

ClinVar: N/A

CAiD: CA400025722 and CA291224999

gnomAD: MAF in the East Asian population is 0.00005437 https://gnomad.broadinstitute.org/variant/17-45364575-A-C

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