Case#: Family 30, UK

DiseaseAssertion: MPS1-S

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: The Scheie phenotype is characterized by aortic valve disease, corneal clouding, limited skeletal problems, but no mental retardation. This is a general assessment and not specific to this patient.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: The α-L-iduronidase enzyme activities in leucocytes from all patients in the study was measured using the artificial substrate 4-methylumbelliferyl α-L iduronide (Sigma). Values ranged from 0 to 2.47 nmol/h/mg protein (reference range: 28–92 nmol/h/mg protein) and did not correlate to the clinical phenotype.

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.590-7G>A; c.678-7G>A in the paper (old nomenclature)

Variant1ClinVarID: 222996

Variant1CAID: CA356990

Variant2: c.1198C>T (p.Q400X)

Variant2ClinVarID: 1683229

Variant2CAID: CA355963534

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Patient 2474, male, northern European origin, he was class valedictorian in high school and then a practicing attorney until his intellect deteriorated later in life.

DiseaseAssertion: MPS1-S, mild

FamilyInfo: Affected sister with MPS-1 who had a similar or slightly more severe clinical phenotype.

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: Fibroblasts has enabled detection of 0.041 ± 0.008 (n = 6) ng of IDUA protein of total cellular protein/mg (0.13% of normal mean). This gives a calculated specific activity and VmX, of 88 and 102 pmol/min/ng of IDUA toward the fluorogenic and heparin-derived disaccharide substrates, respectively, both of which are in the normal range.

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.590-7G>A (678-7G>A)

Variant1ClinVarID: 222996

Variant1CAID: N/A

Variant2: c.1205G>A (p.W402X)

Variant2ClinVarID: 11908

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Patient 2474, male, northern European origin, he was class valedictorian in high school and then a practicing attorney until his intellect deteriorated later in life.

DiseaseAssertion: MPS1-S, mild

FamilyInfo: Affected sister with MPS-1 who had a similar or slightly more severe clinical phenotype.

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: Fibroblasts has enabled detection of 0.041 ± 0.008 (n = 6) ng of IDUA protein of total cellular protein/mg (0.13% of normal mean). This gives a calculated specific activity and VmX, of 88 and 102 pmol/min/ng of IDUA toward the fluorogenic and heparin-derived disaccharide substrates, respectively, both of which are in the normal range.

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.590-7G>A (678-7G>A)

Variant1ClinVarID: 222996

Variant1CAID: CA356990

Variant2: c.1205G>A (p.W402X)

Variant2ClinVarID: 11908

Variant2CAID: CA220498

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A