Case: 7 , F, 36, Italian

DiseaseAssertion: VWD type 3

FamilyInfo: Consanguinity: no

ParentalGenotype:

2435delC on the maternal allele

5170+10C→T on the paternal allele

253T→C on the paternal allele

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:

2435delC (FS), Exon 18

5170+10C→T (Intronic), Exon 29

253T→C (Ser85Pro), Exon 4

Compound Heterozygous

Note: Article assumes that 5170+10C→T would be a frameshift mutation. No potential splice site mutation was confirmed at the mRNA level; “Splice Site Prediction program” found all mutations likely to disrupt normal splicing. No possible splice site mutation could be identified on 100 chromosomes from a group of 50 normal subjects with same genetic background as patients, excluding the possibility that these mutations represent common polymorphisms.