Cam
Case25: "Cam"
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: HP:0000421, HP:0000225
(Epistaxis, gingival bleeding)
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: >20,000/platelet +/- Ca2+
PlateletAggregation: N/A
CasePreviousTesting: N/A
Gene: ITGB3
Variant: NM_000212.2:c.433G>T (p.Asp145Tyr)
LegacyVariant: N/A
ClinVar: 13554
CAiD: CA123226
gnomAD: N/A
PreviouslyPublished: References 41,42
N
Case26: Patient NR
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: HP:0000421, HP:0000225, HP:0000978
(Epistaxis, gingival bleeding, bruising)
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: N/A
PlateletAggregation: N/A
CasePreviousTesting: N/A
Gene: ITGB3
Variant: NM_000212.2:c.433G>T (p.Asp145Tyr)
LegacyVariant: N/A
ClinVar: 13554
CAiD: CA123226
gnomAD: N/A
PreviouslyPublished: Ref 43
The proband is a 6-month-old Caucasian female
Case1: Female, 6 months old, Caucasian
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo:
ParentalGenotype: Mother: Met124Val and Father: Asp119Tyr
CasePresentingHPOs: HP:0003010
(Prolonged bleeding time)
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: Diminished platelet content of αIIbβ3 in the proband (See Figure 1A)
PlateletAggregation: The platelets from the patient did not show aggregation upon stimulation with collagen, ADP, adrenaline, or arachidonic acid, but a response to ristocetin was observed
CasePreviousTesting: The entire coding sequences of ITGA2B and ITGB3 were determined by PCR amplification of overlapping fragments from total RNA
Gene: ITGB3
Variant: NM_000212.2:c.433G>T (p.Asp119Tyr) and NM_000212.2:c.448A>G (p.Met124Val)
LegacyVariant: N/A
ClinVar: 13554
CAiD: CA123226 and CA8622961
gnomAD: MAF in the South Asian population is 0.00003266 http://gnomad.broadinstitute.org/variant/17-45361895-A-G