Case5: GT-5, Caucasian, gender or age not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding symptoms are severe and bleeding time is pathogenic (See Table 1) Abstract mentions patients' bleeding signs include epistaxis, mucocutaneous bleeding, haematomas, petechiae, GI bleeding and menorrhagia; however, not specified per proband.

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry was performed and expression is stated as pathogenic in Table 1

PlateletAggregation: Platelet aggregation was performed and is stated as pathogenic in Table 1; however, no specific agonists mentioned

CasePreviousTesting: All exons of ITGA2B and ITGB3 genes as well as surrounding intron regions were amplified by PCR using intronic primers as pre-viously described (12). The purified DNA fragments were then di-rectly sequenced.

Gene: ITGA2B

Variant: NM_000419.3:c.408G>C and NM_000419.3:c.1787T>C

LegacyVariant: N/A

ClinVar: 2900

CAiD: CA500624244 and CA115846

gnomAD: MAF in the European (non-Finnish) population 0.00006484 http://gnomad.broadinstitute.org/variant/17-42463192-C-G and MAF in European (non-Finnish) population is 0.0001325 http://gnomad.broadinstitute.org/variant/17-42457148-A-G

Case4: Patient 4, Female, 12 years old

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Affected sister is Patient 3

ParentalGenotype: N/A (Not consanguineous Caucasians, showed no increased bleeding tendency)

CasePresentingHPOs: HP:0000967

(Petechiae)

CaseHPOFreeText: Hematomas, prolonged in vitro bleeding time

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry analysis revealed that there was no surface expression of GPIIb/IIIa for Patient 4 and there was approx. 1520 of GPIIb/IIIa expression for Patient 4.

PlateletAggregation: All patients' platelets showed severely reduced platelet aggregation after stimulation with collagen and ADP in contrast to the normal range (See Table 1). Stimulation with epinephrine and arachidonic acid also demonstrated decreased platelet aggregation. In contrast, ristocetin-induced platelet aggregation was within a normal range.

CasePreviousTesting: Sequenced ITGA2B and ITGB3 genes from one patient of each family (Patient 2 and 3) and Patient 1 and 4 were screened for the identified mutation in the corresponding family.

Gene: ITGA2B

Variant: NM_000419.3:c.1787T>C (p.Ile596Thr)

LegacyVariant: N/A

ClinVar: 2900

CAiD: CA115846

gnomAD: MAF in the European (non-Finnish) population is 0.0001325 http://gnomad.broadinstitute.org/variant/17-42457148-A-G

Case20: Patient CG (Found in GT database) also gender and age are not specified for this patient

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: Gingival bleeding and menorrhagia HP:0000225, HP:0000132

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: About 5% of normal GPIIIa and GPIIb surface expression

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.1787T>C and M_000419.3:c.3060+2T>C

LegacyVariant: N/A

ClinVar: 2900

CAiD: CA115846 and CA290944108

gnomAD: MAF in the European (non-Finnish) population is 0.0001325 https://gnomad.broadinstitute.org/variant/17-42457148-A-G and MAF in the European (non-Finnish) population is 0.00003876 https://gnomad.broadinstitute.org/variant/17-42451720-A-G

PreviouslyPublished: References 34 and 35 in this article