87 16 F 28 c.5001G.Cp.Q1667H Hmz ,1 5.3 12 - +
Case: 87, F, 16 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: no family history of disease, Consanguinity: yes
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): <1, VWF:Ag (U/dl): 5.3, Bleeding Score: 12
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.5001G>C (p.Gln1667His), Exon 28
Homozygous
24 0.8 F 14 c.1693C.Tp.Q565* Hmz 2.4 2 3 - +
Case: 24, F, 0.8 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: yes, no family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 2.4, VWF:Ag (U/dl): 2, Bleeding Score: 3
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.1693C>T (p.Gln565*), Exon 14, Homozygous
33 4.5 M 22 c.2908delCp.L970del Hmz 2.3 ,1 10 - -
Case: 33, M, 4.5 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: no family history of disease, Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 2.3, VWF:Ag (U/dl): <1, Bleeding Score: 10
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.2908delC (p.Leu970del), Exon 22, Homozygous
T114M/4780.030.020.05c.7399C>T, c.8418_8419insTCCCp.Gln2467*, p.Ser2807 fs43/52Compound heterozygous
Case: T114, M, 48
DiseaseAssertion: VWD type 37 FamilyInfo: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: Bleeding Score: 8 (Kruskal–Wallis followed by Mann–Whitney U post-hoc testing Post-hoc testing ), VWF:Ag (IU/ml): 0.03, VWF:RCo (IU/ml): 0.02, FVIII:C (IU/ml): 0.05
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.7399C>T (p.Gln2467*), Exon 43
c.8418_8419insTCCC (p.Ser2807 fs), Exon 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
103< 1< 13−−18Mc.2269_2270delCT/c.2435delCp.L757VfsX22/p.P812RfsX3117/1817/18PD/PD
Case: Patient 10, M, 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): 3, VWF:RCo below detection limit (<10 IU dL−1), not detectable VWF 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.2269_2270delCT (p.L757VfsX22), Exon 17
c.2435delC (p.P812RfsX31), Exon 18
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