23342LMWM−21Mc.1730‐10C>A/c.5791C>TSplice/p.Q1931X15/3417/18N/N
Case: Patient 23, M, Hungarian
DiseaseAssertion: VWD type 3
FamilyInfo: compatible with recessive inheritance
ParentalGenotype(s): n/a
CasePresentingHPOs: n/a
CaseHPOFreeRext: Bleeding score: 21, VWF:Ag (IU dL−1): 4, VWF:CB (IU dL−1): 2, VWF:RCo below detection limit (<10 IU dL−1), low‐molecular‐weight multimer on multimer gels
CaseNOTHPOs: n/a
CaseNOTHPOFreeText: no inhibitor detected, did not become refractory to factor replacement therapy
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.1730‐10C>A (Splice), Exon 15
c.5791C>T (p.Gln1931X), Exon 34
Intron 40 VNTR: 17/18
Note: multimer electrophoresis, Recombinant VWF antigen concentrations and Collagen binding activity (VWF:CB) measured by ELISA, direct sequencing of the 51 exons and the exon‐intron boundaries, Breakpoint analysis and breakpoint‐specific PCR