5 Matching Annotations
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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
    5
    1. ClingenBaseline 21 Oct 2026
      54/M

      Case#: Patient 54, male, Han origin, age of diagnosis not available

      DiseaseAssertion: N/A

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      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.236C>T (p.A79V)

      Variant1ClinVarID: 1458769

      Variant1CAID: CA356987

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:1458769 CAID:CA356987 inferred_gene_hgnc:14270 inferred_gene_source:ClinVar IDUA variant annotation
    2. ClingenBaseline 21 Oct 2026
      7/F H/S 0.3 7 years Delayed Yes/+/No +/− +/− c.1225dupG/A79V

      Case#: Wang Patient #7, female, 7yo at dx

      DiseaseAssertion: Hurler/Scheie

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText: IDUA activity=0.3 nmol/h/mg protein (normal range=27.2–52 nmol/h/mg protein.), delayed mental development, cardiac disease, Macrocephaly/joint stiffness

      CaseNotHPOs:

      CaseNotHPOFreeText: mongolian macula, hernia, airway obstruction

      PreviouslyPublished:

      Variant: p.A79V; c.1225dupG

      ClinVar: 1458769;

      CAID: CA356987

      SupplementalData:

      ClinVarID: 1458769 CaseInfo Individual CA356987 inferred_gene_hgnc:14270 inferred_gene_source:ClinVar UNC Biocuration Core
    3. ClingenBaseline 21 Oct 2026
      26/F H 3 years Delayed Yes/+/Yes +/+ +/+ 668insGCG/A79V

      Case#: Wang Patient #26, female, 3yo at dx

      DiseaseAssertion: Hurler

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText: IDUA activity=not stated, delayed mental development, cardiac disease, Macrocephaly/joint stiffness/mongolian macula, Hepatosplenomegaly/ hernia, airway obstruction

      CaseNotHPOs:

      CaseNotHPOFreeText:

      PreviouslyPublished:

      Variant: p.A79V; 668insGCG

      ClinVar: 1458769;

      CAID: CA356987

      SupplementalData:

      ClinVarID: 1458769 CA356987 CaseInfo Individual inferred_gene_hgnc:14270 inferred_gene_source:ClinVar UNC Biocuration Core
    4. ClingenBaseline 21 Oct 2026
      7/F H/S 0.3 7 years Delayed Yes/+/No +/− +/− c.1225dupG/A79V

      Case#: Wang Patient #7, female, 7yo at dx

      DiseaseAssertion: Hurler/Scheie

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText: IDUA activity=0.3 nmol/h/mg protein (normal range=27.2–52 nmol/h/mg protein.), delayed mental development, cardiac disease, Macrocephaly/joint stiffness

      CaseNotHPOs:

      CaseNotHPOFreeText: mongolian macula, hernia, airway obstruction

      PreviouslyPublished:

      Variant: p.A79V; c.1225dupG

      ClinVar: 1458769;

      CAID: CA356987

      SupplementalData:

      ClinVarID: 1458769 CaseInfo Individual CA356987 inferred_gene_hgnc:14270 inferred_gene_source:ClinVar UNC Biocuration Core
    5. ClingenBaseline 21 Oct 2026
      26/F H 3 years Delayed Yes/+/Yes +/+ +/+ 668insGCG/A79V

      Case#: Wang Patient #26, female, 3yo at dx

      DiseaseAssertion: Hurler

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText: IDUA activity=not stated, delayed mental development, cardiac disease, Macrocephaly/joint stiffness/mongolian macula, Hepatosplenomegaly/ hernia, airway obstruction

      CaseNotHPOs:

      CaseNotHPOFreeText:

      PreviouslyPublished:

      Variant: p.A79V; 668insGCG

      ClinVar: 1458769;

      CAID: CA356987

      SupplementalData:

      ClinVarID: 1458769 CA356987 CaseInfo Individual inferred_gene_hgnc:14270 inferred_gene_source:ClinVar UNC Biocuration Core
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1399-0004.2011.01680.x