23< 1110−−23FdelEx1‐3/c.2435delCdelEx1‐3/p.P812RfsX311–3/1818/19N/PD
Case: Patient 2, F, Hungarian
DiseaseAssertion: VWD type 3
FamilyInfo: compatible with recessive inheritance
ParentalGenotype(s): n/a
CasePresentingHPOs: n/a
CaseHPOFreeRext: Bleeding score: 23, VWF:Ag (IU dL−1): < 1, VWF:CB (IU dL−1): 1, FVIII:C (IU dL−1): 10, 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 detected, did not become refractory to factor replacement therapy
CasePreviousTesting: n/a
Gene: VWF
Variant:
delEx1‐3 (delEx1‐3), Exon 1–3
c.2435delC (p.Pro812ArgfsX31), Exon 18
Intron 40 VNTR: 18/19
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