II2
Proband: Mazurier_II2
AgeAtReport: 20yo female
HPO: HP:0000421, HP:0002248, hematoma but did not specify spontaneous and/or frequent
Labs: 4 measurements taken for the same proband so values are a range: FVIII:C 4-10 IU/dL, VWF:Ag 30-53 IU/dL, FVIII:Ag 4-8 IU/dL, VWF:FVIIIB absent
Variant: C1060R - NM_000552.5:c.3178T>C (maternal)
Variant: Y357X - NM_000552.5:c.1071C>A (paternal)
CAID: CA114176
CAID: CA114174
Table 2.
Case#: He_12
CasePresentingHPOs: skeletal deformities: HP:0000924, HP:0012069, reduced GALNS activity in leukocytes (0.8 pmol/g protein/17hr)
CaseGenotypingMethod: Sanger of GALNS exons
Variant: p.R386C & p.W403_T404delinsCS
ClinVar: 700 & 1048331
CAID: CA221040 & CA916079760
gnomAD: 16-88891261-G-A & n/a
Case#: He_21
CasePresentingHPOs: HP:0000924, HP:0012069, GALNS activity in leukocytes 0 pmol/g protein/17hr
CaseGenotypingMethod: Sanger of PCR amplified GALNS exons 1-14
Variant: p.W520X & p.G290R
ClinVar: 1048427 & 93171
CAID: CA397076034 & CA221049
gnomAD: n/a & 16-88880857-C-T
WES analysis of the proband (V:3, Figure 1) resulted in the identification of a biallelic variant (c.697G>A, p.Asp233Asn) in GALNS
Case#: V:3
Demographics: Pakistani
CasePresentingHPOs: HP:0004322, HP:0000768, HP:0000470, HP:0002857, HP:0002650, HP:0002007, HP:0000431, HP:0010674, HP:0002515, HP:0009803, HP:0006119, HP:0001216, HP:0002986, HP:0003027, HP:0008802, HP:0030299, HP:0000926, HP:0004568
CaseNotHPOs:
CasePreviousTesting:
CaseMethod1:
CaseMethod2:
CaseGenotypingMethod: Proband whole exome seq
Variant: NM_000512.5:c.697G>A
ClinVar: 1048200
CAID: CA8235027
gnomAD: 16-88902194-C-T
VariantEvidence: previous pub as pathogenic, and in silico data suggesting damage to catalytic domain
CaseAddInfo: Family was tested via single gene sanger seq., consanguineous parents both carriers, two affected siblings and three unaffected siblings
CasePMIDs:
Proband: F4_AM, 27yo (at report) female
Phenotypes: HP:0030134, HP:0003010, HP:0030129
Family: Both parents carry the variant. All het carriers were classified type 1
Labs: FVIII 0.02 IU/mL, VWF 0.03 IU/mL (below detection threshold)
Variant: NM_000552.5:c.4975C>T
CAID: CA114141