Case1: Female, 20 years old, Caucasian

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: See pedigree in Fig 2

ParentalGenotype: Parental genotype given see Fig 2

CasePresentingHPOs: HP:0000978 (Easy bruising)

CaseHPOFreeText: Mucocutaneous bleeding, menstrual hemorrhages

CaseNotHPOs: N/A

ProteinExpression: The absence of platelet GPIIb-IIIa complexes by flow cytometric analysis with MoAbs was performed and shown

Platelet Aggregation: No response detected either spontaneously or in response to agonists (this is all of the information we are given)

CasePreviousTesting: GPIIb and GPIIIa genes were screened for mutations by SSCP of PCR amplified exons from genomic DNA

Gene: ITGB3

Variant: NM_000212.2:c.1924G>T (p.Glu642Ter)

LegacyVariant: (p.Glu616Ter)

ClinVar: 13565

CAiD: CA123249

gnomAD N/A

Case1: Female, 22 years old, Portuguese

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Also studied were the probands mother (I.2) father (1.1) and sister (II.2) and only her sister has reported excessive bleeding, although her platelet aggregation tests were normal for all of them (See Fig. 2A)

ParentalGenotype: Parents were heterozygous

CasePresentingHPOs: HP:0000967

(Petechia)

CaseHPOFreeText: Mucocutaneous bleeding

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Western blot expression study shows classic type 1 GT with less than 5% surface expression of aIIb3

PlateletAggregation: Platelet aggregation was absent with physiological agonists but agglutination with ristocetin was normal

CasePreviousTesting: Examined each of the 30 exons of beta3 gene and each of the 15 exons of the aIIb gene for migration changes in PCR-SSCP analysis. Each PCR reaction was controlled by electrophoresis of the amplified fragments on 1.5% agarose gels

Gene: ITGB3

Variant: NM_000212.2:c.1924G>T (p.Glu642Ter)

LegacyVariant: N/A

ClinVar: 13565

CAiD: CA123249

gnomAD: N/A