T030M/6670.030.010.09c.-2328T>G, c.2220G>A, c.3379 + 7A>C, c.3539-33G>A, c.3539-49C>T, c.4414dupC, c.5620 + 33-40delA, c.6554G>A, c.6902-5T>A, c.8418_8419insTCCCp.Met740Ile, p.His1472 fs, p.Arg2185Gln, p.Ser2807 fs28/52Compound heterozygous
Case: T030, M, 66
DiseaseAssertion: VWD type 3
FamilyInfo: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: Bleeding Score: 7 (Kruskal–Wallis followed by Mann–Whitney U post-hoc testing Post-hoc testing ), VWF:Ag (IU/ml): 0.03, VWF:RCo (IU/ml): 0.01, FVIII:C (IU/ml): 0.09
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.-2328T>G
c.2220G>A (p.Met740Ile)
c.3379 + 7A>C
c.3539-33G>A
c.3539-49C>T
c.4414dupC (p.His1472 fs)
c.5620 + 33-40delA
c.6554G>A (p.Arg2185Gln)
c.6902-5T>A
c.8418_8419insTCCC (p.Ser2807 fs)
Exon 28/52
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