boy
Case#: Kuijers_1993_NAIT boy_male_>1 y.o.
DiseaseAssertion:
FamilyInfo: All members of this large family were healthy and none had a history of a bleeding tendency or a tendency for thrombosis and/or embolism. There was no previous case of NAIT in the family. Routine blood counts were normal. From the segregation pattern in the family, it can be concluded that the Mo antigen is inherited as an autosomal dominant allele
ParentalGenotype: One affect (likely homozygous) and one unaffected (not carrying)
CasePresentingHPOs: HP:0000967 Petechiae, HP:0007420 Spontaneous hematomas,
PlateletAggregation:
CaseHPOFreeText: hemoglobin (Hb) count of 13.1 mmol/L, hematocrit (Ht) 0.61, leukocyte count 36.6 × 106/L (3 hours postpartum), Gastrointestinal tract bleedings (2 days postpartum). s treated with high-dose intravenous Ig (IVIg) (0.4 g/kg) for 3 days. The platelet count stabilized and started to increase slowly to 46 × 109 in the following weeks
CaseNotHPOs:
CaseNotHPOFreeText:
ProteinExpression: Western blotting showed that the antigen resides on platelet glycoprotein IIIa
CasePreviousTesting:
Method: PCR coding region
PreviouslyPublished:
Gene: ITGB3
Variant: NM_000212.3:c. _C>G (C → G at base 1267 was observed. This C → G mutation changes a CCC codon for proline into a GCC that codes for alanine at amino acid 407 of the mature GP IIIa DNA.) (No other base-pair changes in the entire GP IIIa cDNA were noticed.)
HGVS:
ClinVar:
CAID:
gnomAD:
Affected: 11
Unaffected: 20
Segregations: 11
eLOD: 3.31