ArticleMolecular genetics and metabolism
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
Article in Molecular genetics and metabolism. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 63 citations in OpenAlex.
- Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y.Pediatric research · 2015Trial
- Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study.Journal of inherited metabolic disease · 2014Trial
- Comprehensive characterization and translational implications of the GalnsJournal of human genetics · 2026Article
- Long-term follow-up and response to elosulfase alfa in mucopolysaccharidosis type IVA: a single-center cohort from the Czech Republic.Orphanet journal of rare diseases · 2026Article
- Growth Patterns in MPS IVA and MPS IIIA: A Longitudinal Single-Center Study.Journal of clinical medicine · 2026Article
- Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families withGenes · 2026Article
- Long-term Natural History and Elosulfase Alfa Treatment for Mucopolysaccharidosis Type IVA: A Single-Center Study in the Czech Republic.Research square · 2026Article
- Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS).Orphanet journal of rare diseases · 2025Article
- Commentary on "p53 IHC Result as a Prognostic Tool in MDS".Iranian journal of pathology · 2025Article
- A Novel Missense Mutation of c.965C>T (p.Ala322Val) in the HumanIranian journal of pathology · 2025Article
- A Biomimetic Synthetic Strategy Can Provide Keratan Sulfate I and II Oligosaccharides with Diverse Fucosylation and Sulfation Patterns.Journal of the American Chemical Society · 2024Article
- Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.Molecular syndromology · 2023Article
- The Interplay of Glycosaminoglycans and Cysteine Cathepsins in Mucopolysaccharidosis.Biomedicines · 2023Review
- Detection of Glycosaminoglycans in Biological Specimens.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.Orphanet journal of rare diseases · 2021Article
- Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy.Nature communications · 2021Article
- Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series.Orphanet journal of rare diseases · 2021Article
- Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review.BMC pediatrics · 2021Review
- A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring.Clinical medicine insights. Case reports · 2021Article
- Advances in glycosaminoglycan detection.Molecular genetics and metabolism · 2020Review
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Authors and funding
10 authors at 5 institutions in 4 countries.
Funding
Abstract
Mucopolysaccharidosis IVA (MPS IVA) is caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), leading to systemic skeletal dysplasia because of excessive storage of keratan sulfate (KS) in chondrocytes. In an effort to determine a precise prognosis and personalized treatment, we aim to characterize clinical, biochemical, and molecular findings in MPS IVA patients, and to seek correlations between genotype, phenotype, and blood and urine KS levels. Mutation screening of GALNS gene was performed in 55 MPS IVA patients (severe: 36, attenuated: 13, undefined: 6) by genomic PCR followed by direct sequence analysis. Plasma and urine KS levels were measured by ELISA method. Genotype/phenotype/KS correlations were assessed when data were available. Fifty-three different mutations including 19 novel ones (41 missense, 2 nonsense, 4 small deletions, 1 insertion, and 5 splice-site) were identified in 55 patients and accounted for 93.6% of the analyzed mutant alleles. Thirty-nine mutations were associated with a severe phenotype and ten mutations with an attenuated one. Blood and urine KS concentrations in MPS IVA patients were age-dependent and markedly higher than those in age-matched normal controls. Plasma and urine KS levels in MPS IVA patients with the severe phenotype were higher than in those with an attenuated form. This study provides evidence for extensive allelic heterogeneity of MPS IVA. Accumulation of mutations as well as clinical descriptions and KS levels allows us to predict clinical severity more precisely and should be used for evaluation of responses to potential treatment options.
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