ArticleArchives of disease in childhood1998
Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).
Article in Archives of disease in childhood, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 80 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
- Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.Diagnostics (Basel, Switzerland) · 2025Article
- 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
- Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.Biomedicines · 2022Review
- Physiology and Pathophysiology of Heparan Sulfate in Animal Models: Its Biosynthesis and Degradation.International journal of molecular sciences · 2022Review
- Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II.Molecular therapy. Methods & clinical development · 2021Article
- Nasal Polyposis in mucopolysaccharidosis type II.BMJ case reports · 2021Article
- Mucopolysaccharidosis Type II: A Kenyan Case Series.International journal of endocrinology · 2021Article
- Effect of MutatedDiagnostics (Basel, Switzerland) · 2020Article
- Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course.Molecular genetics and metabolism reports · 2020Article
- Validation of the shortened Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS).Health and quality of life outcomes · 2018Observational
- Comparative studies of vertebrate iduronate 2-sulfatase (IDS) genes and proteins: evolution of A mammalian X-linked gene.3 Biotech · 2017Review
- Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.Orphanet journal of rare diseases · 2017Article
- Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.JIMD reports · 2017Article
- Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.JIMD reports · 2015Article
- Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.JIMD reports · 2014Article
- The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.European journal of pediatrics · 2012Article
- Article
- Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy.Human molecular genetics · 2010Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genomic DNA from 57 unrelated MPS II (Hunter's disease) patients was analysed for mutations of the iduronate sulphatase (IDS) gene. The aim of the study was threefold: to identify the primary genetic lesion in patients, to investigate the correlation between genotype and phenotype, and most importantly, to provide reliable carrier testing for female members once the family mutation was identified. In 42 patients, point mutations were identified involving single base substitutions, deletions, or insertions. These included four new nonsense mutations (R8X, C84X, E245X, Y466X), six new missense mutations (D45N, N115Y, P228L, P266R, E434K, I485K, W502C), three new insertions (c70C71ins, c652C654ins, c709G710ins), six new deletions (c500delC, c705delC, c1023delA, c1049delA, c1141delC, c1576delG), and five new mutations involving splice sites (IVS1-2 a-->g, IVS2-10 t-->g, IVS5 + 2 t-->g L236L, IVS7 + 2 t-->c). One patient had a new seven base deletion in exon 9 (c1482-1488del). Four patients were shown to have complete deletions of the IDS gene and two deletions involved one or more exons. Previously described mutations present in these patients were Q80X, P86L, R172X, G374G, S333L, R443X, and R468Q. In eight patients, no mutation was detected throughout the entire coding region. Most mutations that result in MPS II appear to be unique. Absence of the probands' mutations in eight of nine maternal grandmothers suggests many mutations have arisen recently. Prediction of the clinical phenotype from the identified genotype was difficult in some families, and further studies using reverse transcription polymerase chain reaction are needed to confirm the predicted effects on the IDS mRNA suggested by genomic analysis.
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