ArticleAmerican journal of human genetics1991
Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.
Article in American journal of human genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.Orphanet journal of rare diseases · 2011Guideline
- Clinical relevant Bruton's X-linked tyrosine kinase deficiency in a female with extreme X-chromosome inactivation.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2025Article
- Androgen receptor CAG repeats, non-random X chromosome inactivation, and loss of heterozygosity at Xq25 in relation to breast cancer risk.BMC cancer · 2014Article
- Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.Molecular syndromology · 2014Article
- Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study.Orphanet journal of rare diseases · 2013Article
- Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.Diagnostic pathology · 2011Article
- Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.Journal of inherited metabolic disease · 2010Article
- Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.Orphanet journal of rare diseases · 2010Review
- Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.American journal of medical genetics. Part A · 2008Review
- Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others.Proceedings of the National Academy of Sciences of the United States of America · 1999Article
- Heritability of X chromosome--inactivation phenotype in a large family.American journal of human genetics · 1996Article
- X inactivation of the FMR1 fragile X mental retardation gene.Journal of medical genetics · 1995Article
- Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.American journal of human genetics · 1995Article
- Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE.American journal of human genetics · 1995Article
- Molecular analysis of a ring chromosome X in a family with fragile X syndrome.Human genetics · 1993Article
- Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?Journal of medical genetics · 1993Article
- The postulated X-inactivation center at Xq27 is most reasonably explained by ascertainment bias: heterozygous expression of recessive mutations is a powerful means of detecting unbalanced X inactivation.American journal of human genetics · 1993Article
- Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.American journal of human genetics · 1992Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The mechanism of profound generalized iduronate sulfatase (IDS) deficiency in a developmentally delayed female with clinical Hunter syndrome was studied. Methylation-sensitive RFLP analysis of DNA from peripheral blood lymphocytes from the patient, using MspI/HpaII digestion and probing with M27 beta, showed that the paternal allele was resistant to HpaII digestion (i.e., was methylated) while the maternal allele was digested (i.e., was hypomethylated), indicating marked imbalance of X-chromosome inactivation in peripheral blood lymphocytes of the patient. Similar studies on DNA from maternal lymphocytes showed random X-chromosome inactivation. Among a total of 40 independent maternal fibroblast clones isolated by dilution plating and analyzed for IDS activity, no IDS- clone was found. Somatic cell hybrid clones containing at least one active human X chromosome were produced by fusion of patient fibroblasts with Hprt- hamster fibroblasts (RJK88) and grown in HAT-ouabain medium. Methylation-sensitive RFLP analysis of DNA from the hybrids showed that of the 22 clones that retained the DXS255 locus (M27 beta), all contained the paternal allele in the methylated (active) form. No clone was isolated containing only the maternal X chromosome, and in no case was the maternal allele hypermethylated. We postulate from these studies that the patient has MPS II as a result of a mutation resulting in both the disruption of the IDS locus on her paternal X chromosome and unbalanced inactivation of the nonmutant maternal X chromosome.
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1678247PMC1683291W1601962651What OpenQuestion holds
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