AII:1
Proband: FA_II:1, male uknown age
FamilyDetails: heterozygous unaffected parents, parents were first cousins, VWF:Ag on low end of reference range
Labs: prolonged bleeding time (15min), reduced VWF:Ag (0.06 IU/mL), FVIII:Ag (0.18 IU/mL), FVIII:C (0.20 IU/mL), and VWF:RiCoF (0.06 IU/mL), absent multimers
Genotype: p.Arg273Trp reported as c.1067C>T (MANE transcript is 817C>T)
CAID: CA228829
BII:3
Proband: FB_II:3, male age unknown
Family details: parents are unaffected heterozygotes, VWF:Ag on the low end of reference range
Labs: prolonged bleeding time (15min), reduced VWF:Ag (0.09 IU/mL), FVIII:Ag (0.33 IU/mL), FVIII:C (0.21 IU/mL), and VWF:RiCoF (0.04 IU/mL), absent multimers
Genotype: p.Arg273Trp reported as c.1067C>T (MANE transcript is 817C>T)
CAID: CA228829
CII:6
Proband: FC_II:6, male age unknown
FamilyDetails: parents are unaffected hets, first cousins, fathers VWF:Ag at very low end of reference
Labs: prolonged bleeding time (>20min), reduced VWF:Ag (less than 0.01 IU/mL), FVIII:Ag (0.06 IU/mL), FVIII:C (0.09 IU/mL), and VWF:RiCoF (less than 0.01 IU/mL), absent multimers
Genotype: p.Arg273Trp reported as c.1067C>T (MANE transcript is 817C>T)
CAID: CA228829
The proband, a male child with several siblings (GC20578) born to Somali parents, initially presented several years earlier with horizontal nystagmus and intermittent convergent squint
Case#: GC20578
PresentingHPOs:HP:0000666, HP:0000486, HP:0000540, HP:0001103
PresentingHPOsText: Horizontal nystagmus, strabismus, difficulties with near vision, bilateral central macular disturbance.
CaseNotHPOs: HP:0007642, HP:0031605
CaseNotHPOsText: No night blindness, no fundus abnormalities
CasePreviousTesting: "Previous extensive genetic testing results were negative"
CaseGenotypingMethod1: WES
CaseGenotypingMethod1: Confirmed by bidirectional Sanger sequencing.
Variant: NM_002075.3: c.124C>T (p.Arg42Ter), homozygous
ClinVar: Not in ClinVar
CAID: CA6417419
gnomAD: Pop max MAF 0.00006706 (Latino). No homozygotes.