ArticleJournal of inherited metabolic disease2006
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.
Article in Journal of inherited metabolic disease, 2006. 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, 41 citations in OpenAlex.
- Identification and Functional Characterization ofInternational journal of molecular sciences · 2019Trial
- Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.Human genomics · 2024Review
- Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report.Molecular genetics and metabolism reports · 2024Article
- Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients.International journal of molecular sciences · 2024Article
- Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families.Frontiers in genetics · 2024Article
- Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.Biomedicines · 2022Review
- Golgi requires a new casting in the screenplay of mucopolysaccharidosis II cytopathology.Biologia futura · 2022Review
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- 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
- Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.Journal of molecular medicine (Berlin, Germany) · 2017Article
- Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders.Diseases (Basel, Switzerland) · 2016Review
- Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.JIMD reports · 2015Article
- Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy.Genetics and molecular biology · 2011Article
- Article
- Transposable elements in disease-associated cryptic exons.Human genetics · 2010Article
- Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.Journal of inherited metabolic disease · 2008Article
- Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed.Journal of inherited metabolic disease · 2008Review
- A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome.Journal of Zhejiang University. Science. B · 2007Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disease caused by a defect in the iduronate-2-sulfatase gene (IDS). Alternative splicing of the IDS gene can occur and the underlying regulatory mechanism may be rather complex. Nevertheless, little information is available on the role of variations at the IDS locus in the splicing process. Here we report that splice mutations at the IDS locus are an important source of MPS II pathogenicity, accounting for almost 56% of Portuguese cases. Among 16 unrelated Portuguese MPS II patients, 15 different mutations were identified: six intronic splice mutations (c.104-2AG, c.241-2A>G, c.241-1G>A, c.418+1G>A, c.880-8AG and c.1181-1G>C); two exonic splice mutations (c.1006G>lC and c.1122C>T); five missense mutations (D269V, D69V, D148N, R88C and P86L); one nonsense mutation (Q465Ter); one total IDS gene deletion; and one rearrangement involving a IDS gene inversion. Furthermore, nine of the 15 detected mutations affected the usual splicing pattern at the locus. Some of them are responsible for dramatic changes in the splicing mechanism. For example, the substitution mutation, c.418+1G>A, revealed the presence of an exonic sequence inside intron 3. Our study provides evidence that the IDS locus is prone to splicing mutations and that such susceptibility is particularly high in exon 3 and neighbouring regions. Consequently, mutation screening of the IDS gene cannot be restricted to gDNA examination. Unless cDNA analysis is also conducted, misclassifications as silent or missense mutations can be produced and even uncharacteristic splice-site mutations can be misinterpreted as classic splicing defects that may generate severe, unconventional splicing alterations.
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