Case#: Basani_1996_LeM, female, Caucasian, >1 y.o.

DiseaseAssertion: GT

FamilyInfo: nonconsanguineous parents

ParentalGenotype: one obligatory carrier

CasePresentingHPOs: HP:0000967 Petechiae, HP:0000979 Purpura,

PlateletAggregation: absence of platelet aggregation in response to adenosine diphosphate (ADP), epinephrine, and collagen, but a normal response to ristocetin.

CaseHPOFreeText: Platelet Count (1 day old): 181,000/mm^3

CaseNotHPOs:

CaseNotHPOFreeText:

ProteinExpression: Flow cytometry: platelets expressed <5% of the normal amount of αIIbβ3 when stained with the β3-specific MoAb SSA6,24 the heterodimer-dependent MoAb A2A923,24 or the activation-dependent MoAb PAC1.25 On the other hand, LeM and control platelets bound comparable amounts of the anti-GPIb MoAb AP1, confirming that the defect in the patient's platelets was confined to αIIbβ3

CasePreviousTesting:

Method: PCR using VENT polymerase confirmed with SSCPA

PreviouslyPublished:

Gene: ITGA2B

Variant: exon 13 sequence containing the 6 bp deletion 5’-GTGACA-3’ (deletion of Val425-Asp426) (heterozygous)

HGVS: NM_000419.5:c.1366_1371del (p.Val456_Asp457del)

ClinVar: 2898

CAID: CA8603160

gnomAD: 0.000008791 European (non-Finnish)