ArticleOrphanet journal of rare diseases2020
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 24 citations in OpenAlex.
- The population frequency of predicted pathogenic genetic variants in commonly affected CAKUT genes in the general population.Pediatric nephrology (Berlin, Germany) · 2026Article
- Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families withGenes · 2026Article
- Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Article
- Explainable AI-driven graph-based neural networks for mucopolysaccharidoses diagnosis.BioData mining · 2026Article
- Article
- Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants.Molecular genetics and metabolism reports · 2025Article
- Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case.Intractable & rare diseases research · 2025Article
- Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.Scientific reports · 2025Article
- Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.Investigative ophthalmology & visual science · 2025Article
- Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.Clinical kidney journal · 2025Article
- Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts.Scientific reports · 2025Article
- Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.Human genetics · 2025Article
- Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.bioRxiv : the preprint server for biology · 2024Article
- Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome).Journal of cellular and molecular medicine · 2024Article
- Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions.Genetics in medicine open · 2024Article
- Population Frequency of Undiagnosed Fabry Disease in the General Population.Kidney international reports · 2023Article
- Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.Orphanet journal of rare diseases · 2023Article
- Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities.Orphanet journal of rare diseases · 2021Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn this study, the prevalence of different types of mucopolysaccharidoses (MPS) was estimated based on data from the exome aggregation consortium (ExAC) and the genome aggregation database (gnomAD). The population-based allele frequencies were used to identify potential disease-causing variants on each gene related to MPS I to IX (except MPS II).
methodsWe evaluated the canonical transcripts and excluded homozygous, intronic, 3', and 5' UTR variants. Frameshift and in-frame insertions and deletions were evaluated using the SIFT Indel tool. Splice variants were evaluated using SpliceAI and Human Splice Finder 3.0 (HSF). Loss-of-function single nucleotide variants in coding regions were classified as potentially pathogenic, while synonymous variants outside the exon-intron boundaries were deemed non-pathogenic. Missense variants were evaluated by five in silico prediction tools, and only those predicted to be damaging by at least three different algorithms were considered disease-causing.
resultsThe combined frequencies of selected variants (ranged from 127 in GNS to 259 in IDUA) were used to calculate prevalence based on Hardy-Weinberg's equilibrium. The maximum estimated prevalence ranged from 0.46 per 100,000 for MPSIIID to 7.1 per 100,000 for MPS I. Overall, the estimated prevalence of all types of MPS was higher than what has been published in the literature. This difference may be due to misdiagnoses and/or underdiagnoses, especially of the attenuated forms of MPS. However, overestimation of the number of disease-causing variants by in silico predictors cannot be ruled out. Even so, the disease prevalences are similar to those reported in diagnosis-based prevalence studies.
conclusionWe report on an approach to estimate the prevalence of different types of MPS based on publicly available population-based genomic data, which may help health systems to be better prepared to deal with these conditions and provide support to initiatives on diagnosis and management of MPS.
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