Case1: Female, 4 years old, Japanese

DiseaseAssertion: Thrombocytopenia

FamilyInfo: 4-generation pedigree available

ParentalGenotype: See Figure 1 A for parents in the pedigree

CasePresentingHPOs: HP:0004406, HP:0000979

(Recurrent epistaxis, purpura)

CaseHPOFreeText: Mild bleeding tendency

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry showed reduced expression levels

PlateletAggregation: Platelet aggregation induced by ADP and collagen was markedly reduced but agglutination induced by ristocetin was within the normal range.

CasePreviousTesting: Direct sequencing analysis around T2231 in exon 14 of the ITGB3 gene. Genomic DNA extracted from the affected and unaffected individuals of the pedigree were amplified by PCR and sequenced (See Figure 2)

Gene: ITGB3

Variant: NM_000212.2:c.2231T>C (p.Leu744Pro)

LegacyVariant: p.Leu718Pro

ClinVar: 50229

CAiD: CA143712

gnomAD: N/A

Case1: Female, 43 years old, Caucasian

DiseaseAssertion: Thrombasthenia

FamilyInfo: Pedigree found in Fig. 2B

ParentalGenotype: See Pedigree Fig 2B

CasePresentingHPOs: HP:0000132 (Menorrhagia)

CaseHPOFreeText: Severe and frequent mucocutaneous hemorrhages, intra-peritoneal bleeding

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: 25% decrease of GPIbα and a reduced mean value of side scatter in the patient’s platelets.

PlateletAggregation: Platelet aggregation was markedly reduced in response to ADP, epinephrine, collagen, and arachidonic acid but agglutination induced by ristocetin was normal

CasePreviousTesting: Screening for mutations was carried out by direct sequencing of PCR-amplified overlapping fragments of reversed transcribed αIIb and β3 mRNA.

Gene: ITGB3

Variant: NM_000212.2:c.2231T>C (p.Leu744Pro)

LegacyVariant: (p.Leu718Pro)

ClinVar: 50229

CAiD: CA143712

gnomAD: N/A