Case#: Patient 1, Han origin, male, 2 years old (age at diagnosis).

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: Global Developmental Delay, Macrocephaly, Joint stiffness, Mongolian macula, Hepatosplenomegaly, Hernia, Airway obstruction (HP:0001263, HP:0000256, HP:0001387, HP:0011369, HP:0001433, HP:0100790, HP:0006536)

CaseHPOFreeText: Cardiac disease

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: IDUA activity 0.6 nmol/h/mg protein. The normal range in Chinese controls was found to be 27.2–52 nmol/h/mg protein.

CaseUrineGAGs: Diagnosis was confirmed biochemically by the demonstration of an increased excretion of urinary dermatan sulfate and heparan sulfate.

CaseERT: N/A

CaseBMT: N/A

Variant1: c.713T>G (p.L238R)

Variant1ClinVarID: 2581619

Variant1CAID: CA2802064

Variant2: c.882dupC (Paper refers to the variant as c.883dupC, there is a typo in the article where all duplication variants are one base pair off)

Variant2ClinVarID: 1076379

Variant2CAID: CA2499217013

AdditionalVariants: N/A

ParentalGenotype: Father - c.882dupC (In article - c.883dupC). Mother - c.713T>G. The transmission of sequence variations found in each patient was inferred by sequencing the corresponding exons of the patient's parents - confirmed in trans by parental testing.

PreviouslyPublished N/A

Case#: Case 1, male, 2 years old (age at diagnosis).

DiseaseAssertion: MPS1

FamilyInfo: Proband's mother was pregnant and her genomic DNA was extracted from cultured amniocytes, her fetus did not acquire the same pathogenic gene as the proband and was a normal fetus.

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: Proband was diagnosed using enzymatic detection. IDUA enzyme activity in the mother's amniotic fluid cells in the 2nd pregnancy was 9.0 nmol/(h·mg protein).

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.713T>G (p.Leu238Arg)

Variant1ClinVarID: 2581619

Variant1CAID: CA2802064

Variant2: c.882dupC, in the article this is written as c.883insC (old nomenclature). Various variants from Wang articles have nomenclature errors that are 1 base pair off from the described variant.

Variant2ClinVarID: 1076379

Variant2CAID: CA2499217013

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A