213115LMWM−15Mc.1868G>A/c.3712C>Tp.C623T/p.Q1238X15/2816/17N/N
Case: Patient 21, M, Hungarian
DiseaseAssertion: VWD type 3
FamilyInfo: compatible with recessive inheritance
ParentalGenotype(s): n/a
CasePresentingHPOs: n/a
CaseHPOFreeRext: Bleeding score: 15, VWF:Ag (IU dL−1): 1, VWF:CB (IU dL−1): 1, FVIII:C (IU dL−1): 5, 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.1868G>A (p.Cys623Thr), Exon 15
c.3712C>T (p.Gln1238X), Exon 28
Intron 40 VNTR: 16/17
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