173< 1< 14−−18Fc.7333delG/c.7703C>Ap.E2445RfsX16/p.S2568X43/4517/18N/N
Case: Patient 17, F, Hungarian
DiseaseAssertion: VWD type 3
FamilyInfo: compatible with recessive inheritance
ParentalGenotype(s): n/a
CasePresentingHPOs: n/a
CaseHPOFreeRext: Bleeding score: 18, VWF:Ag (IU dL−1): < 1, VWF:CB (IU dL−1): < 1, FVIII:C (IU dL−1): 4, VWF:RCo below detection limit (<10 IU dL−1), not detectable VWF on multimer gels, bleeding episode severity increased after the menarche
CaseNOTHPOs: n/a
CaseNOTHPOFreeText: no inhibitor detecteddid not become refractory to factor replacement therapy
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.7333delG (p.Glu2445ArgfsX16), Exon 43
c.7703C>A (p.Ser2568X), Exon 45
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