20 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A
    2
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    ncbi.nlm.nih.gov/pmc/articles/PMC9248232/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
    2
    1. ClingenBaseline 21 Oct 2026
      Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

      PMID: 1522213

      Gene: GALNS

      Disease: Mucopolysaccharidosis IVA

      MonDO: MONDO:0009659

      InheritancePattern: AR

      ExperimentName: Expression of variant carrying cDNA in GALNS deficient fibroblasts

      FunctionalEvidence: cDNA encoding each of the 15 variants identified in the study were transfected into a GALNS deficient fibroblast cell line. 14 of the 15 altered cDNA's showed no increase in GALNS activity when the cells were assayed, confirming a lack of enzymatic activity.

      HGNC:

      GeneEvidence:

      SharedGeneImplication:

      Gene: GALNS General ClinGen ExperimentalEvidence FunctionalAlteration inferred_gene_hgnc:4122 inferred_gene_source:Gene_Name UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

      PMID: 1522213

      Gene: GALNS

      Disease: Mucopolysaccharidosis IVA

      MonDO: MONDO:0009659

      InheritancePattern: AR

      ExperimentName: Expression of variant carrying cDNA in GALNS deficient fibroblasts

      FunctionalEvidence: cDNA encoding each of the 15 variants identified in the study were transfected into a GALNS deficient fibroblast cell line. 14 of the 15 altered cDNA's showed no increase in GALNS activity when the cells were assayed, confirming a lack of enzymatic activity.

      HGNC:

      GeneEvidence:

      SharedGeneImplication:

      Gene: GALNS General ClinGen ExperimentalEvidence FunctionalAlteration inferred_gene_hgnc:4122 inferred_gene_source:Gene_Name UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC329963/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review
    2
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    ncbi.nlm.nih.gov/pmc/articles/PMC7786925/
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mucopolysaccharidosis IVA: Identification of a Common Missense Mutation I113F in the N-Acetylgalactosamine-6-Sulfate Sulfatase Gene
    2
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    ncbi.nlm.nih.gov/pmc/articles/PMC1801282/
  6. academic.oup.com academic.oup.com
    Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns−/−) produced by targeted disruption of the gene defective in Morquio A disease
    2
    1. ClingenBaseline 21 Oct 2026
      RESULTS

      NonHumanModel: Murine

      GeneAlteration: murine Galns portions of intron 1 and exon 2 were deleted via homologous recombination of a cre-neomycin resistance-cre cassette and mated with a cre recombinase strain to remove the cassette and complete the deletion

      ModelPhenotype: No outward phenotypes but biochemically there was up to a 6 fold increase in GAG excretion in urine, chondroitin-6-sulfate specifically and not keratan sulfate, consistent with the human phenotype

      HumanPhenotype: in severe cases there are obvious skeletal deformations, increase of GAG's chondroitin-6-sulfate and keratan sulfate in urine and decreased or absent GALNS activity

      ModelEvidence: X-rays of mice and multiple life stages, GAG assays in urine, immunohistochemistry images of tissues with labeled chondoritin-6-sulfate and keratan sulfate to show distribution in multiple tissue types and

      ModelVariant: large deletion of portion of intron 1 and exon 2

      WhereInPaper:

      AnimalModel Gene: GALNS ClinGen ExperimentalEvidence inferred_gene_hgnc:4122 inferred_gene_source:Gene_Name UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      RESULTS

      NonHumanModel: Murine

      GeneAlteration: murine Galns portions of intron 1 and exon 2 were deleted via homologous recombination of a cre-neomycin resistance-cre cassette and mated with a cre recombinase strain to remove the cassette and complete the deletion

      ModelPhenotype: No outward phenotypes but biochemically there was up to a 6 fold increase in GAG excretion in urine, chondroitin-6-sulfate specifically and not keratan sulfate, consistent with the human phenotype

      HumanPhenotype: in severe cases there are obvious skeletal deformations, increase of GAG's chondroitin-6-sulfate and keratan sulfate in urine and decreased or absent GALNS activity

      ModelEvidence: X-rays of mice and multiple life stages, GAG assays in urine, immunohistochemistry images of tissues with labeled chondoritin-6-sulfate and keratan sulfate to show distribution in multiple tissue types and

      ModelVariant: large deletion of portion of intron 1 and exon 2

      WhereInPaper:

      AnimalModel Gene: GALNS ClinGen ExperimentalEvidence inferred_gene_hgnc:4122 inferred_gene_source:Gene_Name UNC Biocuration Core
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    academic.oup.com/hmg/article/12/24/3349/557862
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mucopolysaccharidosis IVA and glycosaminoglycans
    4
    2. ClingenBaseline 21 Oct 2026
      Glycosaminoglycans: KS and C6S

      ExperimentName: Accumulation of glycosaminoglycans

      GOterm:

      FunctionalEvidence: Patient cells assayed with artificial substrates for the N-acetylgalactosamine-6-sulfate sulfatase encoded by GALNS, depending on the severity of the coding sequence alteration, are either unable to break down the substrate or are hindered. Further, in mucopolysaccharidosis IVA patients with known variants, elevated levels of keratan sulfate and chondroitin-6-sulfate can be found in their urine where levels in unaffected individuals are much lower.

      HGNC:

      GeneEvidence:

      SharedGeneImplication:

      Gene: GALNS BiochemicalFunction ExperimentalEvidence inferred_gene_hgnc:4122 inferred_gene_source:Gene_Name UNC Biocuration Core
    4. ClingenBaseline 21 Oct 2026
      Glycosaminoglycans: KS and C6S

      ExperimentName: Accumulation of glycosaminoglycans

      GOterm:

      FunctionalEvidence: Patient cells assayed with artificial substrates for the N-acetylgalactosamine-6-sulfate sulfatase encoded by GALNS, depending on the severity of the coding sequence alteration, are either unable to break down the substrate or are hindered. Further, in mucopolysaccharidosis IVA patients with known variants, elevated levels of keratan sulfate and chondroitin-6-sulfate can be found in their urine where levels in unaffected individuals are much lower.

      HGNC:

      GeneEvidence:

      SharedGeneImplication:

      Gene: GALNS BiochemicalFunction ExperimentalEvidence inferred_gene_hgnc:4122 inferred_gene_source:Gene_Name UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC5293636/
  8. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease
    2
    1. ClingenBaseline 21 Oct 2026
      Four patients (2 males, 2 females)

      Case#: Fateen_P4

      Demographics: Egyptian

      CasePresentingHPOs: HP:0000768, HP:0000943, HP:0002857, HP:0000256, HP:0002808, HP:0001382, HP:0005072, HP:0009769 prominent proximal metaphyses

      CaseNotHPOs:

      CasePreviousTesting:

      CaseMethod1:

      CaseMethod2:

      CaseGenotypingMethod: single gene seq by Sanger of all 14 exons and restriction digest confirmation/ screening of parents and controls

      Variant: NM_000512.5(GALNS):c.119A>G (p.Asp40Gly)

      ClinVar: 1048369

      CAID: CA397100962

      gnomAD: n/a

      VariantEvidence: hydrophillic>hydrophobic substitution in putative active site and enzyme activity data shows low enzyme function compared to reference range

      CaseAddInfo:

      CasePMIDs:

      Individual Gene: GALNS inferred_gene_hgnc:4122 inferred_gene_source:Gene_Name UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      Four patients (2 males, 2 females)

      Case#: Fateen_P4

      Demographics: Egyptian

      CasePresentingHPOs: HP:0000768, HP:0000943, HP:0002857, HP:0000256, HP:0002808, HP:0001382, HP:0005072, HP:0009769 prominent proximal metaphyses

      CaseNotHPOs:

      CasePreviousTesting:

      CaseMethod1:

      CaseMethod2:

      CaseGenotypingMethod: single gene seq by Sanger of all 14 exons and restriction digest confirmation/ screening of parents and controls

      Variant: NM_000512.5(GALNS):c.119A>G (p.Asp40Gly)

      ClinVar: 1048369

      CAID: CA397100962

      gnomAD: n/a

      VariantEvidence: hydrophillic>hydrophobic substitution in putative active site and enzyme activity data shows low enzyme function compared to reference range

      CaseAddInfo:

      CasePMIDs:

      Individual Gene: GALNS inferred_gene_hgnc:4122 inferred_gene_source:Gene_Name UNC Biocuration Core
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0378111916308800
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family
    2
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    ncbi.nlm.nih.gov/pmc/articles/PMC9602411/
  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
    2
    1. ClingenBaseline 21 Oct 2026
      Table 4Variants associated with a clinical phenotype in ≥5 homozygous subjects

      Variant 1. NM_000512.5:c.901G>T 2. NM_000512.5:c.1156C>T 3. NM_000512.5:c.120+1G>A 4. NM_000512.5:c.346G>A 5. NM_000512.5:c.1171A>G 6. NM_000512.5:c.860C>T 7. NM_000512.5:c.139G>A 8. NM_000512.5:c.280C>T 9. NM_000512.5:c.1019G>A 10. NM_000512.5:c.1168del

      Italics highlight common variants with table 2

      inferred_gene_hgnc:4122 inferred_gene_source:RefSeq UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      Table 4Variants associated with a clinical phenotype in ≥5 homozygous subjects

      Variant 1. NM_000512.5:c.901G>T 2. NM_000512.5:c.1156C>T 3. NM_000512.5:c.120+1G>A 4. NM_000512.5:c.346G>A 5. NM_000512.5:c.1171A>G 6. NM_000512.5:c.860C>T 7. NM_000512.5:c.139G>A 8. NM_000512.5:c.280C>T 9. NM_000512.5:c.1019G>A 10. NM_000512.5:c.1168del

      Italics highlight common variants with table 2

      inferred_gene_hgnc:4122 inferred_gene_source:RefSeq UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC9291100/