Case3: (Patient HJ) Male, 52 years old, Japanese

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo:

ParentalGenotype:

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 HJ was 15.4%

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.1757G>T (p.Cys586Phe)

LegacyVariant: (p.His280Pro) and (p.Cys560Phe)

ClinVar: N/A

CAiD: CA291224999 and CA400032481

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