Case#: 3G

DiseaseAssertion:

FamilyInfo: Her father (3F), who reported mild bruising symptoms, and both asymptomatic younger male siblings (3H and 3J) were also investigated. All family members were found to be heterozygous for a previously described mutation in exon 30:c.5191 T → A, resulting in Ser1731Thr.

CaseHPOFreeText4: In family 3, the female proposita (3G) presented in childhood with epistaxis and easy bruising. VWF:Ag and VWF:RCo were borderline low in 3F and 3G but normal in the asymptomatic brothers, 3H and 3J. Multimer analysis was normal in all family members tested (Figure 1). VWF:CB binding to type I collagen was reduced in all family members (CB/Ag ratio 0.4-0.7), whereas only one (3G) showed a reduction in CB:Ag ratio with type III collagen.

CasePreviousTesting: Fifty-one primer sets were used to amplify the essential regions of VWF (52 exons, flanking intronic regions, 5′ promoter region, and the 3′ untranslated region).

Gene: VWF

Variant: heterozygous for a previously described mutation in exon 30:c.5191 T → A, resulting in Ser1731Thr

HGVS: NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)

ClinVar: 100420

CAID: CA228704

gnomAD: 0.004289 in middle eastern pop