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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I
    3
    1. ClingenBaseline 24 Oct 2026
      3

      Case#: Patient 3 was biochemically diagnosed with MPS I because they showed an increase in urinary GAGs and a reduction in IDUA activity in leukocytes. Patient 3 was diagnosed at 2 years.

      DiseaseAssertion: MPSI-H/S

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facies, corneal clouding, skeletal abnormalities (HP:0000256, HP:0007957, HP:0002360)

      CaseHPOFreeText: N/A

      CaseNotHPOs: Cardiac abnormalities, hepatosplenomegaly, intellectual disability, growth delay, hernias (HP:0001627, HP:0001433, HP:0001249, HP:0001510, HP:0100790)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: IDUA activity of 5.9 nmol/mg/protein/hr. No reference range provided.

      CaseUrineGAGs: 2439.5 CPC unit/g creatinine. No reference range provided.

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.613_617dup (p.E207Afs*29)

      Variant1ClinVarID: 11921

      Variant1CAID: CA256123

      Variant2: c.1591delC (p.R531Gfs*29)

      Variant2ClinVarID: 556184

      Variant2CAID: CA658823295

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11921 CAID:CA256123 ClinVarID:556184 CAID:CA658823295 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 23 Oct 2026
      1

      Case#: Patient 1 was biochemically diagnosed with MPS I because they showed an increase in urinary GAGs and a reduction in IDUA activity in leukocytes. Patient 1 was diagnosed at 2 years and 3 months.

      DiseaseAssertion: MPSI-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facies, corneal clouding, intellectual disability, skeletal abnormalities, cardiac abnormalities, and hepatosplenomegaly (HP:0000256, HP:0007957, HP:0001249, HP:0002360, HP:0001627, HP:0001433)

      CaseHPOFreeText: N/A

      CaseNotHPOs: Growth delay, hernias (HP:0001510, HP:0100790)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: IDUA activity of 1.92 nmol/mg/protein/hr. No reference range provided.

      CaseUrineGAGs: 1115.4 CPC unit/g creatinine. No reference range provided.

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.613_617dup (p.E207Afs*29)

      Variant1ClinVarID: 11921

      Variant1CAID: CA256123

      Variant2: c.683delC (p.P228Hfs*6)

      Variant2ClinVarID: N/A

      Variant2CAID: CA2580610937

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      ClinVarID:11921 CAID:CA256123 CAID:CA2580610937 Gene:IDUA CaseInfo DiseaseEntity:MPS1 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4983032/
  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
    7
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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
    Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations
    7
    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 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
    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 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
    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 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
    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 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
    6. 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
    7. 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/
  5. www.gimjournal.org www.gimjournal.org
    Expanding the phenome and variome of skeletal dysplasia
    1
    1. ClingenBaseline 23 Oct 2026
      While genes with established links to skeletal dysplasia accounted for the majority of cases (91%) (Supplementary Figure S2, Table S1 online), our analysis revealed potential confirmation of previously reported candidates. Specifically, C3orf17 (NEPRO) was previously proposed by us as a novel candidate gene in an autosomal recessive Larsen-like phenotype.13.Shaheen R. Patel N. Shamseldin H. et al.Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.10.1038/gim.2015.147Genet Med. 2015; 18: 686-695Google Scholar In addition to the previously published family, we were able to identify a second family (15DG2238 and 15DG2239) with an identical phenotype of facial dysmorphism (midfacial hypoplasia, depressed nasal bridge, frontal bossing, wide anterior fontanel), chest narrowing with pectus excavatum, and acromelia (see Figure 2 and Supplementary Table S2 online) in whom we identified the same homozygous variant (haplotype analysis confirmed the founder nature of the variant).

      Case#: Case 12DG1568, female, Arab, 18mo

      DiseaseAssertion: MPS Ih

      FamilyInfo: Parents are a second-degree consanguineous couple with three other healthy children, and they had a son who died at 12 years of age and a cousin with a similar phenotype

      CasePresentingHPOs: HP:0000280, HP:0100876, HP:0005280, HP:0000463, HP:0000256, HP:0001433

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      PreviouslyPublished: n/a

      Variant: NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) homozygous

      ClinVar: 11921

      CAID: CA256123

      SupplementalData: genotype and phenotype in Table S1, S6

      ClinVarID: 11921 CA256123 inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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    gimjournal.org/article/S1098-3600(21)00022-8/fulltext
  6. 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
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1399-0004.2011.01680.x
  7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I"
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6172781/
  8. 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
    3
    1. ClingenBaseline 22 Oct 2026
      2 Hurler 1OM F 704ins5/704ins5 (+) 70 (1Y) (--I (-) aliv

      Case#: Yamagishi Case 2, female, 10mo, Japanese

      DiseaseAssertion: MPS1-Hurler

      FamilyInfo: n/a

      CasePresentingHPOs:

      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
    2. 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
    3. 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