8 2 F 10 c.1117C.T p.R373* Hmz 4.5 ,1 11 - -
Case: 8, F, 2 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no, no family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 4.5, VWF:Ag (U/dl): <1, Bleeding Score: 11
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.1117C>T (p.Arg373*), Exon 10, Homozygous
T090M/280.010.040.01c.1117C>T, gene conversion (c.3931C>T, c.4027A>G, c.4079T>C, c.4105T>A)p.Arg373*, p.Gln1311*, p.Ile1343Val, p.Val1360Ala, p.Phe1369Ile10/28Compound heterozygous
Case: T090, M, 2
DiseaseAssertion: VWD type 3
FamilyInfo: inherited heterozygous gene conversion from the father
CasePresentingHPOs: n/a
CaseHPOFreeText: Bleeding Score: 8 (Kruskal–Wallis followed by Mann–Whitney U post-hoc testing Post-hoc testing ), VWF:Ag (IU/ml): 0.01, VWF:RCo (IU/ml): 0.04, FVIII:C (IU/ml): 0.01
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.1117C>T (p.Arg373*)
Gene Conversion (
c.3931C>T (p.Gln1311*)
c.4027A>G (p.Ile1343Val)
c.4079T>C (p.Val1360Ala)
c.4105T>A (p.Phe1369Ile)
)
Exon 10/28
Compound heterozygous
Note: ELISA-based assay for detecting alloantibodies, genomic analysis via sequencing of leukocytes for the VWF gene including exons 1-52 and about 1.5 km of VWF promoter, PCR amplification for variant confirmation, SALSA-MLPAVWF assay evaluation for partial/total gene deletions when sequencing did not reveal pathogenic explanation