The proband (II2) was a 7-year-old male child at the time of diagnosis.
Case#: II2 Figure 1A, Male, 7yo
DiseaseAssertion: Glanzmann's thrombasthenia
**FamilyInfo: ** Figure 1A, non-consanguineous, sibling (II1) died at 5yo, sibling (II3) in good health, mother and father heterozygous carriers
ParentalGenotype: both parents heterozygous carriers
CasePresentingHPOs: (HP:0001933) subcutaneous bleeding, (HP:0004406) spontaneous epistaxis, (HP:0011858) coagulation factor IX decreased
PlateletAggregation: Platelets were normal, coagulation factors normal, vWF factor normal, bone marrow normal. Platelet count via LH780 automatic blood analyzer, vWF via immunoturbidimetry, CD41(GPⅡb)/CD6l (GPⅢa) and CD42b via flow cytometry.
CaseHPOFreeText:Hemophilia B. Mutation in the F9 gene c.8G > A of unknown clinical significance, considered non-pathogenic.
CaseNotHPOs:
**CaseNotHPOFreeText: **
ProteinExpression: Flow cytometry results revealed that CD41 (GPⅡb) and CD6l (GPⅢa) were 2.05% and 0%, respectively (normal values ranged from 95% to 97%), suggesting that the expression of platelet surface membrane glycoprotein GPIIb/IIIa was significantly reduced.
CasePreviousTesting: Whole exome sequencing verified by Sanger sequencing. Whole gene synthesis, qPRC analysis, Western blotting.
**PreviouslyPublished: **
Gene: ITGB3
Variant: c.1431C > T/p.Gly477 = in ITGB3 exon10 in the proband
HGVS: NM_000212.3:c.1431C>T
**ClinVar: ** 3242396
**CAID: ** CA500651220
gnomAD: Absent