1ItalyF/38<1—NoSevere276delT/2157delAFS/FS4/16HeterozygousTth111II (+)/BsmAI (+)
Case: 1, F, 38, Italian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (U/dl): <1, Bleeding symptoms: Severe
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
276delT (FS), Exon 4
2157delA (FS), Exon 16
Homozygous
6 M/28 <1 9 No 15 c.2157delA/c.7729+7C>T p.D720TfsX21/p.E2577GfsX21 16/(45) Heterozygous
Case: 6, M, 28, Italian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (IU/dL): <1, FVIII:C (IU/dL): 9, Bleeding Score: 15
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.2157delA (p.Asp20ThrfsX21), Exon 16
c.7729+7C>T (p.Glu2577GlyfsX21), Intron 45
Compound Heterozygous
Note: patient also has homozygous deletion of 40 bp (NP_000543.2, where 1 is adenine in ATG initiation codon) due to the skipping of exon 50; c.7729+7C>T resulted in altering the normal mRNA splicing process