ArticleAmerican journal of human genetics1996
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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Who cites it
23 citing papers in PubMed, 61 citations in OpenAlex.
- High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.European journal of neurology · 2025Article
- Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.Orphanet journal of rare diseases · 2024Article
- AMolecular genetics and metabolism reports · 2024Article
- Growth patterns in patients with mucopolysaccharidosis VII.Molecular genetics and metabolism reports · 2023Article
- Epidemiology of Mucopolysaccharidoses Update.Diagnostics (Basel, Switzerland) · 2021Review
- A rare late progression form of Sly syndrome mucopolysaccharidosis.JIMD reports · 2019Article
- Epidemiology of mucopolysaccharidoses.Molecular genetics and metabolism · 2017Article
- Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.Prenatal diagnosis · 2017Article
- First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.Case reports in pediatrics · 2017Article
- Clinical course of sly syndrome (mucopolysaccharidosis type VII).Journal of medical genetics · 2016Article
- Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.Orphanet journal of rare diseases · 2012Review
- Glycosaminoglycan storage disorders: a review.Biochemistry research international · 2012Article
- Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).Human mutation · 2009Review
- Lysosomal storage disorders in the newborn.Pediatrics · 2009Review
- Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.Journal of medical genetics · 2005Article
- Cumulative incidence rates of the mucopolysaccharidoses in Germany.Journal of inherited metabolic disease · 2005Article
- Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase.Human molecular genetics · 2003Article
- Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
- Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII mice.Proceedings of the National Academy of Sciences of the United States of America · 2001Article
- Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse.Molecular and cellular biology · 1998Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although not all mucopolysaccharidosis type VII (MPS VII) neonates present with hydrops fetalis or with related symptoms, hydrops fetalis is a common form of presentation of this mucopolysaccharidosis. We used reverse-transcription-PCR-SSCP and direct sequencing to screen for mutations in the human beta-glucuronidase cDNA of 17 MPS VII patients with severe presentation of the disease. Mutations resulting in an unstable mRNA were detected in genomic DNA with direct sequencing of the PCR-amplified beta-glucuronidase exons. We found extensive genetic heterogeneity in MPS VII alleles: in addition to 6 or 12 previously reported mutations (L176F, R216W, R357X, R382C, W507X, and W627C), we detected 14 undescribed mutations in the beta-glucuronidase coding region that produce MPS VII alleles (G136R, E150K, S312X, Y320S, Y320C, H351Y, R382H, R374C, R435P, R477W, G572D, Y508C, K606N and 1900 delta GA). The mutations in hydropic fetuses were widely scattered in the beta-glucuronidase gene. Analysis of three polymorphic sites of the mutant alleles (1766T/C, 1972C/T and a new 1091+27C/G polymorphism) allowed exclusion of identity by descent for some recurrent mutations. Three of four mutations introducing a premature translation stop codon were found to affect mRNA abundance and/or structure. Expression studies provided evidence for the causal relationship between each of the mutations found in MPS VII alleles and the enzyme deficiency, in that all mutations identified exhibited markedly reduced enzyme activity expressed in COS7 cells following transfection with the mutant cDNA.
Indexed as
Identifiers
8644704PMC1914559W1535574637What OpenQuestion holds
Registered trials
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