ArticleJournal of inherited metabolic disease2013
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
Article in Journal of inherited metabolic disease, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 69 citations in OpenAlex.
- Identification and Functional Characterization ofInternational journal of molecular sciences · 2019Trial
- Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.European journal of pediatrics · 2019Trial
- Adult disease burden in patients with mucopolysaccharidosis type I H (Hurler syndrome): A comprehensive literature review with patient case analysis.Molecular genetics and metabolism reports · 2026Review
- Mucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review.BMC pediatrics · 2026Review
- Variant profile of Brazilian patients with Sanfilippo syndrome type B.Genetics and molecular biology · 2026Article
- Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya.Orphanet journal of rare diseases · 2025Article
- Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.American journal of medical genetics. Part A · 2025Article
- VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.Computational and structural biotechnology journal · 2025Article
- Functional assessment of IDUA variants of uncertain significance identified by newborn screening.NPJ genomic medicine · 2024Article
- Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report.Molecular genetics and metabolism reports · 2024Article
- Review
- Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families.Frontiers in genetics · 2024Article
- Mucopolysaccharidosis Type I in Mexico: Case-Based Review.Children (Basel, Switzerland) · 2023Article
- Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Review
- Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.Biomedicines · 2022Review
- Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).BMC medical genomics · 2021Article
- Network Analysis Reveals Proteins Associated with Aortic Dilatation in Mucopolysaccharidoses.Interdisciplinary sciences, computational life sciences · 2021Article
- Epidemiology of Mucopolysaccharidoses Update.Diagnostics (Basel, Switzerland) · 2021Review
- Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.Frontiers in molecular biosciences · 2021Article
- Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.Orphanet journal of rare diseases · 2020Article
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3 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidosis (MPS) disorders are heterogeneous and caused by deficient lysosomal degradation of glycosaminoglycans, resulting in distinct but sometimes overlapping phenotypes. Molecular analysis was performed for a total of 355 MPS patients with MPSI (n = 15), MPSII (n = 218), MPSIIIA (n = 86), MPSIIIB (n = 20), MPSIVA (n = 6) or MPSVI (n = 10). This analysis revealed 104 previously unreported mutations: seven in IDUA (MPSI), 61 in IDS (MPSII), 19 in SGSH (MPSIIIA), 11 in NAGLU (MPSIIIB), two in GALNS (MPSIVA) and four in ARSB (MPSVI). The intergenic comparison of the mutation data for these disorders has revealed interesting differences. Whereas IDUA, IDS, NAGLU and ARSB demonstrate similar levels of mutation heterogeneity (0.6-0.675 different mutations per total alleles), SGSH and GALNS have lower levels of mutation heterogeneity (0.282 and 0.455, respectively), due to more recurrent mutations. The type of mutation also varies significantly by gene. SGSH, GALNS and ARSB mutations are usually missense (76.5 %, 81.8 % and 85 %), while IDUA has many more nonsense mutations (56 %) than the other genes (≤20%). The mutation spectrum is most diverse for IDS, including intergenic inversions and multi-exon deletions. By testing 102 mothers of MPSII patients, we determined that 22.5 % of IDS mutations are de novo. We report the allele frequency of common mutations for each gene in our patient cohort and the exonic distribution of coding sequence alterations in the IDS, SGSH and NAGLU genes, which reveals several potential "hot-spots". This further molecular characterization of these MPS disorders is expected to assist in the diagnosis and counseling of future patients.
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