2 Matching Annotations
  1. Oct 2026
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations
    2
    1. ClingenBaseline 24 Oct 2026
      One is a novel 5-bp insertion between the thymidine at nt 704 and a cytosine at nt 705 (704ins5), which is seen only in the Japanese population.

      annotating here since this is a PDF

      Case#: Yamagishi Case 5, female, 1y at clinical dx, 20y at enzymatic dx, 31y at death

      DiseaseAssertion: Hurler/Scheie

      FamilyInfo: n/a

      CasePresentingHPOs: HP:0002240

      CaseHPOFreeText: height=117cm at 21yo. cardiac involvement. CHF caused death

      CaseNotHPOs:

      CaseNotHPOFreeText: mental delay

      PreviouslyPublished: n/a

      Variant: 704ins5; R89Q

      ClinVar: 11921; 11922

      CAID: CA256123; CA256124

      SupplementalData: n/a

      CaseInfo Individual ClinVarID: 11921 ClinVarID: 11922 CA256123 CA256124 inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      One is a novel 5-bp insertion between the thymidine at nt 704 and a cytosine at nt 705 (704ins5), which is seen only in the Japanese population.

      annotating here since this is a PDF

      Case#: Yamagishi Case 3, female, 3y4m at dx

      DiseaseAssertion: Hurler/Scheie

      FamilyInfo: Case 4 is this patient's sibling. Same genotype and similar phenotype

      CasePresentingHPOs: HP:0001433

      CaseHPOFreeText: height=90cm (-1.2SD)

      CaseNotHPOs:

      CaseNotHPOFreeText: mental delay. cardiac involvement

      PreviouslyPublished: n/a

      Variant: 704ins5; R89Q

      ClinVar: 11921; 11922

      CAID: CA256123; CA256124

      SupplementalData: n/a

      CaseInfo Individual ClinVarID: 11921 CA256123 CA256124 ClinVarID: 11922 inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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    pubmed.ncbi.nlm.nih.gov/8664897/