10 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6180571/
  3. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC9291100/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads
    3
    2. ClingenBaseline 23 Oct 2026
      Case Description

      Case#: Ma_Proband

      Demographics: east Asian? referenced in passing in discussion section

      CasePresentingHPOs: HP:0003182, HP:0008812, HP:0002655, HP:0003621, HP:0000943, HP:0001498, HP:0003049, HP:0002857, HP:0004689,

      CaseNotHPOs: HP:0008445, HP:0002751, HP:0000768, HP:0008445

      CasePreviousTesting: Previous diagnosis Developmental dysplasia of the hip (DDH)

      CaseMethod1: quantify urinary excretion of glycosaminoglycans using dimethylmethylene blue

      CaseMethod2:

      CaseGenotypingMethod: Whole exome sequencing

      Variant HGVS: 1) NM_000512.5:c.1156C>T 2) NM_000512.5:c.1288C>G

      ClinVar: 1) 700 2) N/A

      CAID: 1) CA221040 2) CA397096290

      gnomAD v2: 1) 16-88891261-G-A 2) N/A

      VariantEvidence:

      CaseAddInfo: Onset of symptoms age 8, compound het

      CasePMIDs:

      ClinGen Gene:GALNS Case CaseInfo Individual inferred_gene_hgnc:4122 inferred_gene_source:CAID UNC Biocuration Core
    3. ClingenBaseline 23 Oct 2026
      Laboratory tests, the pedigree of the patient, and sequencing information. (A) Proband is a 17-year-old woman with a major complaint of progressive walking pain in bilateral hips which gradually disabled her from any motion of lower extremities since the clinical manifestation debuted at her age of 8. We discovered compound heterozygous variants at exon 11 (c.1156C>T; blue arrows) and exon 12 (c.1288C>G; red arrows) of the GALNS gene, respectively. The sequencing results indicate both parents are respective carriers and each donated a different heterozygous allele. (B) Urinary GAG/Creatinine (mg/mmol) was measured using samples collected from MPS IVA patient and their family members during hospital visits.

      Family#PresentingHPOs: None

      FamilyNotHPOs: Free of clinical phenotypes

      CountryOrigin: China

      Ethnicity: Chinese

      Race: east Asian

      Family#GenotypingMethod: Whole exome sequencing

      Affected: None reported

      Unaffected: mother and maternal grandmother carriers of same allele, father carrier for separate allele

      Segregations: 2?

      PublishedLOD: N/A

      eLOD: too few segregations

      AddSegregationInfo:

      ProbandLabel: Ma_Proband

      Variant: Maternal - NM_000512.5:c.1288C>G Paternal - NM_000512.5:c.1156C>T

      ClinVar:

      CAID:

      gnomAD:

      FamilyAddInfo: paternal allele is previously reported as pathogenic, maternal allele and has only been reported in one proband/family

      FamilyPMIDs: 34557487

      ClinGen Case FamilyInfo Gene:GALNS inferred_gene_hgnc:4122 inferred_gene_source:Gene_Name UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC9289150/
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Morquio Syndrome Presenting with Dural Band Pathology: A Case Report
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7773441/
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC9210747/
  7. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC9248232/
  8. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC1801282/
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mucopolysaccharidosis IVA and glycosaminoglycans
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5293636/