Case#: Patient 2, Chinese descent, 9 years old (age at report), height of 95 cm (3rd percentile), weight of 22.5 kg (35th percentile)

DiseaseAssertion: MPS 1

FamilyInfo: The second child of non-consanguineous parents. Affected younger sister (Patient 1).

CasePresentingHPOs: Short stature, skeletal dysplasia, joint stiffness, claw hand deformity, coarse facial features, prominent forehead, wide nose, flared nostrils, thick lips, inguinal hernia, visual impairment, endocardial fibroelastosis, asthma (HP:0004322, HP:0002652, HP:0001387, HP:0034337, HP:0000280, HP:0011220, HP:0000445, HP:0000454, HP:0000219, HP:0000023, HP:0000505, HP:0001706, HP:0002099)

CaseHPOFreeText: Fulminant myocarditis, minor mitral, tricuspid, aortic, and pulmonary regurgitation (at 8 months of age), edema and granular opacity of the corneas

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.2T>C (p.M1?)

Variant1ClinVarID: 639529

Variant1CAID: CA2801095

Variant2: c.911delT (p.V304fs)

Variant2ClinVarID: 1184991

Variant2CAID: CA2573052265

AdditionalVariants: N/A

ParentalGenotype: Paternal: c.2T>C, Maternal: c.911delT

PreviouslyPublished N/A

Case#: Patient 1, Chinese descent, 7 years old (age at report), born via normal pregnancy and delivery, height of 96 cm (<3rd percentile), weight of 22.5 kg (25th-50th percentile).

DiseaseAssertion: MPS 1

FamilyInfo: The third child of non-consanguineous parents. Affected older sister (Patient 2).

CasePresentingHPOs: Short stature, skeletal dysplasia, joint stiffness, claw hand deformity, coarse facial features, prominent forehead, wide nose, flared nostrils, thick lips, inguinal hernia, visual impairment (HP:0004322, HP:0002652, HP:0001387, HP:0034337, HP:0000280, HP:0011220, HP:0000445, HP:0000454, HP:0000219, HP:0000023, HP:0000505)

CaseHPOFreeText: Corneal edema with diffuse granular opacity, central corneal thickness

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.2T>C (p.M1?)

Variant1ClinVarID: 639529

Variant1CAID: CA2801095

Variant2: c.911delT (p.V304fs)

Variant2ClinVarID: 1184991

Variant2CAID: CA2573052265

AdditionalVariants: N/A

ParentalGenotype: Paternal: c.2T>C, Maternal: c.911delT

PreviouslyPublished N/A

Case#: Patient 2, female

DiseaseAssertion: MPS I

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: Low IDUA enzyme activity 21.60 (Ref. 4.87 ~ 54.70 μmol/g protein/h)

CaseUrineGAGs: Negative GAG tests

CaseERT: N/A

CaseBMT: N/A

Variant1: c.76G>A (p.A26T)

Variant1ClinVarID: 712785

Variant1CAID: CA280110

Variant2: c.911delT (p.V304Gfs*13)

Variant2ClinVarID: 1184991

Variant2CAID: CA2573052265

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Infant #7, female.

DiseaseAssertion: MPS-I

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 21.60 IDUA enzyme activity (Ref. 5.9–27.8 μmol/g protein/h)

CaseUrineGAGs: DMB/Cre. Ratio - 26.82, DS - 0.20, HS - 0.01, KS - 6.49 GAG quantifications (DMB/Cre ratio) and the normal reference values based on the age groups: <6 mos: <70.68 mg /mmol cre.; 6 mos–2 yrs: <46.80 mg /mmol cre.; 2–17 yrs: <20.98 mg /mmol cre.; and >18 yrs: <12.62 mg /mmol cre. Quantitative analyses of GAG-derived disaccharides (DS, S, or KS) by tandem mass spectrometry assay. The normal cut-off values: DS < 0.80 μg/mL; HS < 0.78 μg/mL; and KS < 7.90 μg/mL.

CaseERT: N/A

CaseBMT: N/A

Variant1: c.76G>A (p.A26T)

Variant1ClinVarID: 712785

Variant1CAID: CA280110

Variant2: c.911delT (p.V304Gfs*13)

Variant2ClinVarID: 1184991

Variant2CAID: CA2573052265

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A