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  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
    5
    1. 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
    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 1, female, 3y1m at dx

      DiseaseAssertion: Hurler

      FamilyInfo: consanguinity

      CasePresentingHPOs: HP:0002240

      CaseHPOFreeText: mental delay. height=89cm (-1.5SD)

      CaseNotHPOs:

      CaseNotHPOFreeText: cardiac involvement

      PreviouslyPublished: n/a

      Variant: 704ins5/704ins homozygous

      ClinVar: 11921

      CAID: CA256123

      SupplementalData: n/a

      ClinVarID: 11921 CA256123 CaseInfo Individual inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
    3. 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 2, female, 10m at dx

      DiseaseAssertion: Hurler

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText: mental delay. height=70cm

      CaseNotHPOs: HP:0002240

      CaseNotHPOFreeText: cardiac involvement

      PreviouslyPublished: n/a

      Variant: 704ins5/704ins homozygous

      ClinVar: 11921

      CAID: CA256123

      SupplementalData: n/a

      ClinVarID: 11921 CA256123 CaseInfo Individual inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
    4. 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
    5. 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 1, female, 3y1m at dx

      DiseaseAssertion: Hurler

      FamilyInfo: consanguinity

      CasePresentingHPOs: HP:0002240

      CaseHPOFreeText: mental delay. height=89cm (-1.5SD)

      CaseNotHPOs:

      CaseNotHPOFreeText: cardiac involvement

      PreviouslyPublished: n/a

      Variant: 704ins5/704ins homozygous

      ClinVar: 11921

      CAID: CA256123

      SupplementalData: n/a

      ClinVarID: 11921 CA256123 CaseInfo Individual inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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    pubmed.ncbi.nlm.nih.gov/8664897/
  3. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Mutational analysis of the α-l-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations
    5
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1399-0004.2004.00374.x
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I
    2
    1. ClingenBaseline 21 Oct 2026
      In this study we report the first development of a denaturating high performance liquid chromatography (dHPLC) protocol for the rapid and accurate detection of recently described mutations in the IDUA gene. Optimal PCR running and dHPLC partial denaturing conditions for mutation detection were established for each PCR amplicon corresponding to 14 IDUA exons and their adjacent intronic/flanking sequences. Results: A total of 12 different mutations, 5 nonsense, 4 missense, 1 deletion, and 2 splice site (intron), in 10 MPS I patients were screened. All mutations revealed a distinct dHPLC pattern thus enabling their accurate detection.

      This proband was "described and recently published by Vazna et al." (PMID: 19396826). Patient is compound heterozygous for c.1882C>T (p.Arg628Ter) and c.208C>T (p.Gln70Ter) (P based on classification by the ClinGen Lysosomal Diseases VCEP); phase confirmed in trans. PM3=0 points

      PreviouslyPublished ClinVarID: 550421 CA2802462 inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      In this study we report the first development of a denaturating high performance liquid chromatography (dHPLC) protocol for the rapid and accurate detection of recently described mutations in the IDUA gene. Optimal PCR running and dHPLC partial denaturing conditions for mutation detection were established for each PCR amplicon corresponding to 14 IDUA exons and their adjacent intronic/flanking sequences. Results: A total of 12 different mutations, 5 nonsense, 4 missense, 1 deletion, and 2 splice site (intron), in 10 MPS I patients were screened. All mutations revealed a distinct dHPLC pattern thus enabling their accurate detection.

      This proband was "described and recently published by Vazna et al." (PMID: 19396826). Patient is compound heterozygous for c.1882C>T (p.Arg628Ter) and c.208C>T (p.Gln70Ter) (P based on classification by the ClinGen Lysosomal Diseases VCEP); phase confirmed in trans. PM3=0 points

      PreviouslyPublished ClinVarID: 550421 CA2802462 inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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    pubmed.ncbi.nlm.nih.gov/19954743/
  5. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Structural and clinical implications of amino acid substitutions in α-l-iduronidase: Insight into the basis of mucopolysaccharidosis type I
    1
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S1096719213003351
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC9331972/
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Phenotype prediction for mucopolysaccharidosis type I by in silico analysis
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5496269/
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetics and genomic medicine in Tunisia
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5902400/
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3115308/
  10. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations
    1
    1. ClingenBaseline 21 Oct 2026
      1 Hurler 3Y1M F (+) 704ins5/704ins5 (+) 89 (3YlM) hepatoinegaly (-) unknown

      Case#: Yamagishi Case 1, female, 3yo1mo, Japanese

      DiseaseAssertion: MPS1-Hurler

      FamilyInfo: consanguinity

      CasePresentingHPOs: HP:0001510, HP:0002240

      CaseHPOFreeText: mental delay, height -1.5SD

      CaseNotHPOs:

      CaseNotHPOFreeText: cardiac involvement

      PreviouslyPublished: n/a

      Variant: 704ins5 homozygous

      ClinVar: 11921

      CAID: CA256123

      SupplementalData: n/a

      CaseInfo Individual ClinVarID: 11921 CA256123 inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdfdirect/10.1002/(SICI)1098-1004(1996)7:1<23::AID-HUMU3>3.0.CO;2-Q
  11. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
    1
    1. ClingenBaseline 21 Oct 2026
      R628X/R628X6 (1.6%)

      Case#: Severe MPS1 patients, 6 individuals with this genotype

      DiseaseAssertion: Severe MPS I

      FamilyInfo: n/a

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting: n/a

      GenotypingMethod: n/a

      PreviouslyPublished: possible

      Variant: R628X/R628X

      ClinVar: 550421

      CAID: CA2802462

      SupplementalData: Table S1 also lists this variant one time in compound heterozygosity with Q70X

      CA2802462 ClinVarID: 550421 SupplementalTable InsufficientEvidence inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC6852151/
  12. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system—trends observed from a single genetic unit
    1
    1. ClingenBaseline 21 Oct 2026
      2.1.14 year/MDistended abdomen, developmental delayNo − PathogenicIDUAc.1882C > Tp. Arg628TerHomMPS I

      Case#: Patient 2.1.1, male, 4yo, Indian

      DiseaseAssertion: MPS1

      FamilyInfo: No family history reported, but said not to be consanguineous

      CasePresentingHPOs:

      CaseHPOFreeText: Distended abdomen, developmental delay

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: NGS, Sanger

      PreviouslyPublished:

      Variant: c.1882C > T p. Arg628Ter homozygous

      ClinVar: 550421

      CAID: CA2802462

      SupplementalData: n/a

      CaseInfo Individual CA2802462 ClinVarID: 550421 inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC8818190/