ArticleJournal of medical genetics1999
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
Article in Journal of medical genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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Who cites it
20 citing papers in PubMed, 63 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
- Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice.Scientific reports · 2025Article
- Review
- Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II.International journal of molecular sciences · 2021Review
- A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase.Molecular genetics and metabolism reports · 2020Article
- Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.International journal of molecular sciences · 2020Review
- Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II.Cell death & disease · 2018Article
- Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.Nature communications · 2017Article
- Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.Orphanet journal of rare diseases · 2017Article
- Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).Molecular genetics and metabolism reports · 2014Article
- The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.European journal of pediatrics · 2012Article
- Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy.Genetics and molecular biology · 2011Article
- Article
- Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.Genetics and molecular biology · 2010Article
- Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.Journal of inherited metabolic disease · 2006Article
- A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.Proceedings of the National Academy of Sciences of the United States of America · 2006Article
- Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.Journal of human genetics · 2005Article
- MPS screening methods, the Berry spot and acid turbidity tests, cause a high incidence of false-negative results in sanfilippo and morquio syndromes.Journal of clinical laboratory analysis · 2002Article
- Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia.Bone marrow transplantation · 2000Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidosis type II (Hunter syndrome) is an X linked lysosomal storage disorder resulting from heterogeneous mutations in the iduronate-2-sulphatase (IDS) gene. To detect IDS gene mutations, direct sequencing of IDS cDNA fragments coupled with assays on IDS genomic amplicons was applied to 18 unrelated patients with MPS II. Seventeen mutations were detected from the 18 patients including seven missense mutations (S71R, A82E, A85T, R88C, R468W, R468Q, and E521V), five deletions (alphaR95, 383delAT, 596delAACA, 1148delC, and 1216delCT), two insertions (208insC and 1063insA), two splicing mutations (1006+5g-->c in intron 7, 1122C-->T in exon 8), and an intragenic deletion of IDS exons 4, 5, 6, and 7. Nine of the small mutations were novel mutations. Mutation 596del-AACA was detected in two unrelated patients. The mutation in intron 7 was found to cause aberrant splicing and resulted in a 22 bp insertion into its mRNA transcript. The intragenic deleted IDS gene expressed two aberrant mRNA transcripts consisting of exons 1-2-8-9 and 3-8-9. Analysis of mutations A85T, R88C, R468Q, R468W, and 438C/T found no polymorphism for the four missense mutations but about 36% heterozygosity for the 438C/T silent mutation. These results provide further evidence of mutational heterogeneity for MPS II. Also, underlying sequence directed mutagenesis mechanisms for some recurrent mutations in the IDS gene were proposed.
Indexed as
Identifiers
9950361PMC1762941W2169772284What 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.