Case: IP-6

DiseaseAssertion: VWD2

FamilyInfo: Mother is unaffected carrier of F8 Asn2129Ser. The VWF deletion of exons 33-34 segregates in 5 other affected male family members including the father and a full brother of IP-6. The patient’s father displayed a significant decrease in VWF:Ag and VWF:RCo, 13% and 7%, respectively, FVIII: C of 18.5% and the VWF:RCo/VWF:Ag ratio of 0.5 pointing out to type 2 VWD.

ParentalGenotype(s): Mother is heterozygous for F8FAsn2129Ser. Father is heterozygous for VWF deletion of exons 33-34.

CasePresentingHPOs:

CaseHPOFreeRext: VWF:Ag (17%), VWF:RCo (9%) and FVIII:C (1,9%). Bleedings in the oral cavity, ankle joint and hematomas.

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: Direct sequencing of exons 2–52 including exon/intron boundaries of the VWF gene

GenotypingMethod: multiple ligation‐dependent probe amplification (MLPA; using kit P011 and P012; MRC Holland, Amsterdam, the Netherlands) according to the manufacturer’s instructions. The PCR products were run on an ABI PRISM 3130XL sequencer with the GeneScan 500 LIZ size standard and analyzed using GeneMapper Software 5.0 (Applied Biosystems, Darmstadt, Germany). Dosage analysis based on a comparison between deleted and reference wild‐type DNA samples was performed using the Excel‐based software Coffalyser V9.4 (MRC Holland).

PreviouslyPublished: NA

Gene:VWF

Variant: deletion of exons 33-34

HGVS:

ClinVarID:

CAID:

gnomAD:

MultipleGeneVariants:

GeneName: F8

Variant: Asn2129Ser

ClinVarID or CAID:

gnomAD: