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  2. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis
    2
    1. ClingenBaseline 22 Oct 2026
      56/M

      Case#: Patient 56, male, Han origin, 3 years old (age at diagnosis)

      DiseaseAssertion: MPS1-H/S

      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 0.8 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.1037T>G (p.L346R)

      Variant1ClinVarID: 11927

      Variant1CAID: CA256128

      Variant2: c.1210G>T (p.E404X)

      Variant2ClinVarID: 552095

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: 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

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11927 CAID:CA256128 ClinVarID:552095 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 22 Oct 2026
      52/F

      Case#: Patient 52, female, Han origin, 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 1.1 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.1210G>T (p.E404X)

      Variant1ClinVarID: 552095

      Variant1CAID: N/A

      Variant2: c.1877G>A (p.W626X)

      Variant2ClinVarID: 928997

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: 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

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:552095 ClinVarID:928997 inferred_gene_hgnc:17075 inferred_gene_source:ClinVar IDUA variant annotation
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1399-0004.2011.01680.x