Proband 2 was a 6-year-old girl diagnosed with recurrent hematemesis (upper gastrointestinal bleeding added up to five times) at age 2.
Case2: 6 year old, Female, Chinese
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: Case1 is sister of this proband. Additional family information found in table 1.
ParentalGenotype: Father: Heterozygous for the p.Cys549Ser variant and did not find the p.Gln254Lys variant. Mother: Did not find the p.Cys549Ser variant but she is heterozygous for the p.Gln254Lys variant.
CasePresentingHPOs: HP:0002248
CaseHPOFreeText: Upper gastrointestinal bleeding added up to five times at age 2.
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: The expression of CD41 and CD61 was detected by platelet immunofluorescence test-flow cytometry. The expression of CD41 and CD61 of Case1 was remarkably lower than other family members (261.90 and 355.45 respectively).
CasePreviousTesting: DNA was isolated and ITGB3 and ITGA2B gene sequences were amplified by PCR with a high fidelity Taq Polymerase.
Gene: ITGB3
Variant: NM_000212.2:c.1646G>C (p.Cys549Ser), and NM_000212.2:c.760C>A (p.Gln254Lys)
LegacyVariant: N/A
ClinVar: N/A
CAiD: CA400030198 (p.Cys549Ser) and CA400023674 (p. Gln254Lys)
gnomAD: MAF: 0.00005453 (p.Cys549Ser) https://gnomad.broadinstitute.org/variant/17-45369890-G-C and MAF not available for (p.Gln254Lys)