ReviewHuman mutation2021
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Review in Human mutation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 37 citations in OpenAlex.
- Morquio syndrome masquerading as juvenile idiopathic Arthritis: A case report.Radiology case reports · 2026Article
- 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
- Long-term Natural History and Elosulfase Alfa Treatment for Mucopolysaccharidosis Type IVA: A Single-Center Study in the Czech Republic.Research square · 2026Article
- Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome.Molecular genetics and metabolism reports · 2026Article
- rhGALNS Enzyme Stability in Physiological Buffers: Implications for Sustained Release.Applied biochemistry and biotechnology · 2025Article
- Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction.Molecular medicine (Cambridge, Mass.) · 2025Article
- A Rare Case of Morquio Syndrome in Palestine: Clinical, Radiological, and Genetic Insights.Cureus · 2025Article
- Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome).Molecular genetics and metabolism reports · 2025Article
- Commentary on "p53 IHC Result as a Prognostic Tool in MDS".Iranian journal of pathology · 2025Article
- Hematopoietic stem cell transplantation in children with mucopolysaccharidosis IVA: single center experience.Bone marrow transplantation · 2025Article
- A Novel Missense Mutation of c.965C>T (p.Ala322Val) in the HumanIranian journal of pathology · 2025Article
- Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.Human genomics · 2024Review
- Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis.JMIR research protocols · 2024Article
- Delayed diagnosis of mild mucopolysaccharidosis type IVA.BMC medical genomics · 2024Article
- Iron oxide-coupled CRISPR-nCas9-based genome editing assessment in mucopolysaccharidosis IVA mice.Molecular therapy. Methods & clinical development · 2023Article
- Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks.International journal of molecular sciences · 2023Review
- Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.Molecular syndromology · 2023Article
- Enhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts.International journal of molecular sciences · 2023Article
- Hydrogel Delivery Device for the In Vitro and In Vivo Sustained Release of Active rhGALNS Enzyme.Pharmaceuticals (Basel, Switzerland) · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 9 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected, analyzed, and uniformly summarized all published GALNS gene variants, thus updating the previous mutation review (published in 2014). In addition, new variants were communicated by seven reference laboratories in Europe, the Middle East, Latin America, Asia, and the United States. All data were analyzed to determine common alleles, geographic distribution, level of homozygosity, and genotype-phenotype correlation. Moreover, variants were classified according to their pathogenicity as suggested by ACMG. Including those previously published, we assembled 446 unique variants, among which 68 were novel, from 1190 subjects (including newborn screening positive subjects). Variants' distribution was missense (65.0%), followed by nonsense (8.1%), splicing (7.2%), small frameshift deletions(del)/insertions(ins) (7.0%), intronic (4.0%), and large del/ins and complex rearrangements (3.8%). Half (50.4%) of the subjects were homozygous, 37.1% were compound heterozygous, and 10.7% had only one variant detected. The novel variants underwent in silico analysis to evaluate their pathogenicity. All variants were submitted to ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) to make them publicly available. Mutation updates are essential for the correct molecular diagnoses, genetic counseling, prenatal and preimplantation diagnosis, and disease management.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.