The propositus (A.C.S.; II.1) in family 1 is a 22-yearold Portuguese girl
Case1: Female, 22 years old, Portuguese
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: Also studied were the probands mother (I.2) father (1.1) and sister (II.2) and only her sister has reported excessive bleeding, although her platelet aggregation tests were normal for all of them (See Fig. 2A)
ParentalGenotype: Parents were heterozygous
CasePresentingHPOs: HP:0000967
(Petechia)
CaseHPOFreeText: Mucocutaneous bleeding
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: Western blot expression study shows classic type 1 GT with less than 5% surface expression of aIIb3
PlateletAggregation: Platelet aggregation was absent with physiological agonists but agglutination with ristocetin was normal
CasePreviousTesting: Examined each of the 30 exons of beta3 gene and each of the 15 exons of the aIIb gene for migration changes in PCR-SSCP analysis. Each PCR reaction was controlled by electrophoresis of the amplified fragments on 1.5% agarose gels
Gene: ITGB3
Variant: NM_000212.2:c.1924G>T (p.Glu642Ter)
LegacyVariant: N/A
ClinVar: 13565
CAiD: CA123249
gnomAD: N/A