ET
Case31: Patient ET
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: HP:0000978, HP:0000421, HP:0000132
(Bruising, epistaxis, menorrhagia)
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.719G>A (p.Arg240Gln)
LegacyVariant: N/A
ClinVar: 13553
CAiD: CA123224
gnomAD: N/A
PreviouslyPublished: Reference 52
patient ET,
Case1: Patient ET, gender, age, and ethnicity is not specified
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
ProteinExpression: "However, ET platelets exhibited a normal surface expression of a-granule thrombospondin" this is all of the information we are given in this article; however Reference 13 might mention more on the protein expression. However, access is not available for article 13 at this time.
PlateletAggregation: ET's platelets fail to aggregate in response to stimuli (the article does not state which agonists/stimuli and does not mention response to ristocetin)
CasePreviousTesting: Two regions of ITGB3 were selected for amplification and sequence analysis. The first region, corresponding to exonIII encodes a fragment from D96 to D179 and the second region corresponding to exon IV, encodes a fragment from M180 to D233.
Gene: ITGB3
Variant: (NM_000212.2:c.719G>A (p.Arg240Gln)
LegacyVariant: (p.Arg214Gln)
ClinVar: 13553
CAiD: CA123224
gnomAD: N/A
PreviouslyPublished: Patient ET may have been previously published in PMID: 2512684; however, access is not available to this article
patient 9
Case1: Patient 9, Female, 10 years old
DiseaseAssertion: Glanzmann thrombasthenia III (Diagnosed at 3 months of age)
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: Bleeding phenotypes are not specified per patient in this article, rather, it states: "Petechia, epistaxis, and prolonged bleeding after trauma were the most common symptoms among studied patients"
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: This patient has type III Glanzmann thrombasthenia; therefore, according to this article, this proband showed normal or near-nromal levels of the GPIIb/IIIa complex via flow cytometry.
PlateletAggregation: Prolonged bleeding time, abnormal clot retraction, impaired platelet aggregation induced by most physiological agonists (ADP, epinephrine, and collagen) except ristocetin, mucosal bleeding, easy bruising, epistaxis, as well as normal prothrombin/acivated partial thromboplastin time, and normal platelet count. (This is among inclusion criteria for this study)
CasePreviousTesting: To identify the underlying molecular mechanism of GPIIb/IIIa complex abnormalities among probands in this study, all the 30 exons of ITGA2B and the 15 exons of ITGB3 were analyzed using PCR–CSGE and DNA sequencing.
Gene: ITGB3
Variant: NM_000212.2:c.719G>A (p.Arg240Gln)
LegacyVariant: N/A
ClinVar: 13553
CAiD: CA123224
gnomAD: N/A
Supplementary Tables 1 and 2 combined information:
Case33: GT33, Female, 12 years old
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: Not available per supplementary table 1
ParentalGenotype: Parents are consanguineous, no other genotype information available
CasePresentingHPOs: HP:0000978, HP:0000979, HP:0031364, HP:0000421
(Bruising, purpura, ecchymosis, epistaxis)
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: Showed <5% of αIIbβ3 expression measured by flow cytometry
PlateletAggregation: Platelet aggregation showed a small response to ADP, no response to collagen but normal response to ristocetin
CasePreviousTesting: All exons from ITGA2B and ITGB3 genes were amplified by PCR using intronic primers. DNA sequencing was determined by Sanger sequencing.
Gene: ITGB3
Variant: NM_000212.2:c.719G>A (p.Arg240Gln)
LegacyVariant: N/A
ClinVar: 13553
CAiD: CA123224
gnomAD: N/A