female infant
Case#: Female, at birth
DiseaseAssertion: Glanzmann Thrombasthenia
FamilyInfo: Figure 1 Consanguinity Mother: 27 yo. Positive for mutation. Epistaxis, hypochromic microcytic anemia, cesarean postoperative vaginal bleeding. Maternal aunt present with GT, Positive for mutation. Maternal cousin present with GT, Positive for mutation. Paternal cousins present with GT, Positive for mutation.
ParentalGenotype: Both parents heterozygous carriers.
CasePresentingHPOs: HP:0000978, Bruising susceptibility. HP:0000225, Gingival bleeding. HP:0003265, Neonatal hyperbilirubinemia. HP:0011869, Abnormal platelet function. HP:0004887, Respiratory failure requiring assisted ventilation. HP:0000967, Petechiae.
PlateletAggregation: Normal coagulation. Reduced platelet function.
CaseHPOFreeText: APGAR score 9. Spontaneous skin bruising. Started on feeds second day of life.
ProteinExpression: Platelet function assays showed severely reduced activity.
Gene: ITGB3
Variant: p.Asp145Asn
HGVS: NP_000203.2:p.Asp145Asn
ClinVar: 627066
CAID: CA400021939
gnomAD: Absent