ReviewHuman mutation2018
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Review in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
What it found
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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
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 citations in OpenAlex.
- Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.Orphanet journal of rare diseases · 2023Pooled it
- Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.European journal of pediatrics · 2019Trial
- Enzyme-regulated biomineralization: Biological functions and advanced biomaterials for tissue regeneration.Bioactive materials · 2026Review
- RPE Abnormality Is a Potential Primary Cause for Retinal Degeneration in Mucopolysaccharidosis Type VI Patients and a Rat Model.Investigative ophthalmology & visual science · 2026Article
- Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry.World journal of clinical pediatrics · 2025Article
- Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.Biomolecules · 2025Review
- Rat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- Functional Analysis of Complex Structural and Splice-Altering Variants in theHuman mutation · 2025Article
- Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.Human genomics · 2024Review
- The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).Journal of community genetics · 2024Article
- Abnormal dental follicle cells: A crucial determinant in tooth eruption disorders (Review).Molecular medicine reports · 2024Review
- REMOVER-PITCh: microhomology-assisted long-range gene replacement with highly multiplexed CRISPR-Cas9.In vitro cellular & developmental biology. Animal · 2024Article
- Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia.Orphanet journal of rare diseases · 2024Article
- Detection of inversion with breakpoints inFrontiers in genetics · 2024Article
- Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families.Frontiers in genetics · 2024Article
- The clinical and genotypic-phenotypic findings of mucopolysaccharidosis VI patients: an Iraqi single-study descriptive study.Annals of medicine and surgery (2012) · 2023Article
- Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses.Biomedicines · 2023Review
- Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C humanBiochemistry and biophysics reports · 2022Article
- Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis.JIMD reports · 2022Article
- Insulin-inducible THRSP maintains mitochondrial function and regulates sphingolipid metabolism in human adipocytes.Molecular medicine (Cambridge, Mass.) · 2022Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Maroteaux-Lamy syndrome (MPS VI) is an autosomal recessive lysosomal storage disorder caused by pathogenic ARSB gene variants, commonly diagnosed through clinical findings and deficiency of the arylsulfatase B (ASB) enzyme. Detection of ARSB pathogenic variants can independently confirm diagnosis and render genetic counseling possible. In this review, we collect and summarize 908 alleles (201 distinct variants, including 3 polymorphisms previously considered as disease-causing variants) from 478 individuals diagnosed with MPS VI, identified from literature and public databases. Each variant is further analyzed for clinical classification according to American College of Medical Genetics and Genomics (ACMG) guidelines. Results highlight the heterogeneity of ARSB alleles, with most unique variants (59.5%) identified as missense and 31.7% of unique alleles appearing once. Only 18% of distinct variants were previously recorded in public databases with supporting evidence and clinical significance. ACMG recommends publishing clinical and biochemical data that accurately characterize pathogenicity of new variants in association with reporting specific alleles. Variants analyzed were sent to ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/), and MPS VI locus-specific database (http://mps6-database.org) where they will be available. High clinical suspicion coupled with diagnostic testing for deficient ASB activity and timely submission and classification of ARSB variants with biochemical and clinical data in public databases is essential for timely diagnosis of MPS VI.
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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.