4 Matching Annotations
  1. Oct 2026
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I
    2
    1. ClingenBaseline 26 Oct 2026
      two boys

      Case#: Boy 3, male, 5 years old, born of normal pregnancy with a birth weight of 3,200 grams

      DiseaseAssertion: MPS-I H/S

      FamilyInfo: Boy 1 was born to a Chinese family of five members, with a total of 3 boys. Genetic testing was conducted on all 5 family members. The first and third child (boy 1 and boy 3) have MPS I. The second son had a normal phenotype and genotype.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Lesions (similar to elder brother; noted at 3 years old)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 3.29 nmol/h/mg (reference range >21)

      CaseUrineGAGs: Positive for urinary polysaccharide toluidine blue staining test

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.265C>T (p.R89W)

      Variant1ClinVarID: 580286

      Variant1CAID: CA2801156

      Variant2: c.1633G>T (p.E545X)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355965099

      AdditionalVariants: N/A

      ParentalGenotype: Mother carries c.265C>T and father carries c.1633G>T.

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:580286 CAID:CA2801156 CAID:CA355965099 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 22 Oct 2026
      two boys

      Case#: Boy 1, male, 10 years old, born at full-term with a birth weight of 3,400 grams.

      DiseaseAssertion: MPS-I H/S

      FamilyInfo: Boy 1 was born to a Chinese family of five members, with a total of 3 boys. Genetic testing was conducted on all 5 family members. The first and third child (boy 1 and boy 3) have MPS I. The second son had a normal phenotype and genotype.

      CasePresentingHPOs: Claw hands, limitation of joint mobility, corneal clouding (HP:0034337, HP:0001376, HP:0007957)

      CaseHPOFreeText: Swollen knee, lesions (noted at 3 years old)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 3.84 nmol/h/mg (reference range >21)

      CaseUrineGAGs: Positive for urinary polysaccharide toluidine blue staining test

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.265C>T (p.R89W)

      Variant1ClinVarID: 580286

      Variant1CAID: CA2801156

      Variant2: c.1633G>T (p.E545X)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355965099

      AdditionalVariants: N/A

      ParentalGenotype: Mother carries c.265C>T and father carries c.1633G>T.

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:580286 CAID:CA2801156 CAID:CA355965099 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/31544795/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles
    1
    1. ClingenBaseline 23 Oct 2026
      missense mutations

      Case#: Patient 13, Italy

      DiseaseAssertion: MPS1-H/S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.265C>T (p.R89W)

      Variant1ClinVarID: 580286

      Variant1CAID: CA2801156

      Variant2: c.1487C>G (p.P496R)

      Variant2ClinVarID: 496861

      Variant2CAID: CA2802275

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      ClinVarID:580286 CAID:CA2801156 ClinVarID:496861 CAID:CA2802275 CaseInfo DiseaseEntity:MPS1 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/21394825/
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome
    1
    1. ClingenBaseline 22 Oct 2026
      11

      Case#: Patient 11 (see Table 2), male, 19 years old (age at report), 9.4 years (duration of treatment), 8 surgeries

      DiseaseAssertion: MPS1-HS

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0000238, HP:0002176 (Hydrocephalus, Spinal cord compression)

      CaseHPOFreeText:

      CaseNotHPOs: HP:0002360 (sleep abnormality)

      CaseNotHPOFreeText: Shunt placement, psychiatric problems

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: Yes

      CaseBMT: N/A

      Variant1: c.265C>T (p.R89W)

      Variant1ClinVarID: 580286

      Variant1CAID: CA2801156

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

      Variant2ClinVarID: 11908

      Variant2CAID: CA220498

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:580286 CAID:CA2801156 ClinVarID:11908 CAID:CA220498 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3939822/