Case#: Peretz_1995_proband. 26 y.o. female. Iranian-Jewish

DiseaseAssertion: Glanzmann's Thrombasthenia

FamilyInfo: consanguineous, 1 of 2 brothers were affected (affected was homozygous for variant, unaffected was homozygous for normal, both siblings with no platelet aggregation with ADP, collagen, epinephrine, and normal response to ristocetin. Their clot retraction was absent and the binding of monoclonal antibody (MoAb) 10E5, which recognizes the GPIIb/IIIa complex,26 was minimal.

ParentalGenotype: heterozygous, both

CasePresentingHPOs:

PlateletAggregation: no platelet aggregation in response to adenosine diphosphate, collagen, or epinephrine and had a normal response to ristocetin.

CaseHPOFreeText: moderate mucocutaneous bleeding

CaseNotHPOs:

CaseNotHPOFreeText:

ProteinExpression: heterodimer in transfected COS-7 cells resulted in low peroxidase activity, indicating lack of surface expression of the heterodimer.

CasePreviousTesting:

Method: Testing was through southern blot analysis with restriction enzymes and amplification of fragments

PreviouslyPublished:

Gene: ITGA2B

Variant: 6-bp deletion and 31-bp insertion in exon 25 of the GPIIb gene - altered C-terminal sequence of 105 amino acids starting at Val-825 - substitution of 10 amino acids Leu817-Asn826 by an altered sequence of 8 amino acids

HGVS: NM_000419.5:c.2473_2478delinsTCACCAGGGCCTTCACGTGAGCATGGAGAG

ClinVar:

CAID: CA2581931358

gnomAD: No matching variants found