Case1: Male, 40 years old, French

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Mild bleeding symptoms have been reported in his grandmother and a first cousin, but they were not available for further study

ParentalGenotype: The mother is asymptomatic; however, genetic testing confirmed her to be heterozygous for the GT mutation (No information on father's genetic information for this mutation)

CasePresentingHPOs: HP:0000225

(Gingival bleeding)

CaseHPOFreeText: Very mind bleeding

CaseNotHPOs: HP:0000421, HP:0000978

(Epistaxis, bruising)

CaseNotHPOsFreeText: N/A

ProteinExpression: The surface expression of GPIIb-IIIa was about 20% of normal, whereas GPIb (93%) was normally expressed (See Figure 1A)

PlateletAggregation: Platelet aggregation was markedly impaired in response to physical agonists including: ADP, arachidonic acid, epinephrine, and collagen; however, ristocetin induced normal aggregation

CasePreviousTesting: All 30 exons and immediate flanking sequences of the GPIIb gene, and all 15 exons and immediate flanking sequences of the GPIIIa gene, were amplified by PCR.

Gene: ITGB3

Variant: NM_000212.2:c.1756T>C (p.Cys586Arg)

LegacyVariant: (p.Cys560Arg)

ClinVar: N/A

CAiD: CA400032477

gnomAD: N/A