Case3: Male, age not specified, Cypriot (paternal uncle of 3 year old)

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Brother and brother's daughter were also affected with same mutation (See Figure 3 for family pedigree)

ParentalGenotype: Parents were heterozygous for same mutation (See Figure 3 pedigree)

CasePresentingHPOs: HP:0000225, HP:0000421, HP:0031364

(Gingival bleeding, epistaxis, ecchymosis)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry showed decreased surface expression of αIIb and β3 in patients' platelets

PlateletAggregation: Absent platelet aggregation in response to ADP, epineprhine, collagen but normal ristocetin induced platelet aggregation

CasePreviousTesting: SSCP analysis of the αIIb gene in the three patients revealed an altered pattern of migration of the DNA fragment containing exons 5 and 6 and their flanking intronic regions.

Gene: ITGA2B

Variant: M_000419.3:c.605T>G (p.Phe202Cys)

LegacyVariant: (p.Phe171Cys) + 31= (p.Phe202Cys)

ClinVar: N/A

CAiD: CA399805605

gnomAD: N/A

Case2: Male, age not specified, Cypriot (father of 3 year old)

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Daughter and brother were also affected with same mutation (See Figure 3 for family pedigree)

ParentalGenotype: Parents were heterozygous for same mutation (See Figure 3 pedigree)

CasePresentingHPOs: HP:0000225, HP:0000421, HP:0031364

(Gingival bleeding, epistaxis, ecchymosis)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry showed decreased surface expression of αIIb and β3 in patients' platelets

PlateletAggregation: Absent platelet aggregation in response to ADP, epineprhine, collagen but normal ristocetin induced platelet aggregation

CasePreviousTesting: SSCP analysis of the αIIb gene in the three patients revealed an altered pattern of migration of the DNA fragment containing exons 5 and 6 and their flanking intronic regions.

Gene: ITGA2B

Variant: M_000419.3:c.605T>G (p.Phe202Cys)

LegacyVariant: (p.Phe171Cys) + 31= (p.Phe202Cys)

ClinVar: N/A

CAiD: CA399805605

gnomAD: N/A

Case1: Female, 3 years old, Cypriot

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Father and paternal uncle were also affected with same mutation (See Figure 3 for family pedigree)

ParentalGenotype: Father is homozygous for the mutation and the mother is heterozygous for the mutation (See Discussion)

CasePresentingHPOs: HP:0000225, HP:0000421, HP:0031364

(Gingival bleeding, epistaxis, ecchymosis)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry showed decreased surface expression of αIIb and β3 in patients' platelets

PlateletAggregation: Absent platelet aggregation in response to ADP, epineprhine, collagen but normal ristocetin induced platelet aggregation

CasePreviousTesting: SSCP analysis of the αIIb gene in the three patients revealed an altered pattern of migration of the DNA fragment containing exons 5 and 6 and their flanking intronic regions.

Gene: ITGA2B

Variant: NM_000419.3:c.605T>G (p.Phe202Cys)

LegacyVariant: (p.Phe171Cys) + 31= (p.Phe202Cys)

ClinVar: N/A

CAiD: CA399805605

gnomAD: N/A