18-year-old woman
Case1: Female, 18 years old, ethnicity not specified
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: Flow cytometry showed mutated CD41 protein and lack of CD61 surface expression
PlateletAggregation: Platlets were stimulated by ADP and thromboxane A2 and stained with PAC-1, which specifically detects only the activated conformation of αIIbβ3. GT platelets from both sources showed diminished PAC-1 binding after both agonist treatments compared to corresponding CTR cells
CasePreviousTesting: PCR primers used for sequencing of exons containing mutations in ITGA2B gene
Gene: ITGA2B
Variant: NM_000419.3:c.1922C>T (p.Pro641Leu) and NM_000419.3:c.2478dup (p.Gly827Trp)
LegacyVariant: N/A
ClinVar: N/A
CAiD: CA399801154 and CA915940290
gnomAD: N/A