ArticleAmerican journal of human genetics2003
Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers.
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Who cites it
84 citing papers in PubMed, 367 citations in OpenAlex.
- Crossing the finish line towards a disease-modifying treatment for Angelman syndrome.Journal of neurodevelopmental disorders · 2026Review
- Intermediately Methylated Regions in Normal Cells Are Epimutation Hotspots in Cancer.bioRxiv : the preprint server for biology · 2025Article
- Expanding Upon Genomics in Rare Diseases: Epigenomic Insights.International journal of molecular sciences · 2024Review
- Article
- Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses.Molecular cytogenetics · 2023Article
- Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.European journal of human genetics : EJHG · 2023Article
- Long non-coding RNA H19: a potential biomarker and therapeutic target in human malignant tumors.Clinical and experimental medicine · 2023Review
- Harnessing male germline epigenomics for the genetic improvement in cattle.Journal of animal science and biotechnology · 2023Review
- The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.Genes · 2023Review
- Generation and Characterization of a Novel Angelman Syndrome Mouse Model with a Full Deletion of theCells · 2022Article
- Methylation analysis and developmental profile of two individuals with Angelman syndrome due to mosaic imprinting defects.European journal of medical genetics · 2022Article
- Epigenetic inheritance of acquired traits through DNA methylation.Animal frontiers : the review magazine of animal agriculture · 2021Article
- High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects.The Journal of clinical endocrinology and metabolism · 2021Article
- Review
- Do Transgenerational Epigenetic Inheritance and Immune System Development Share Common Epigenetic Processes?Journal of developmental biology · 2021Review
- Review
- Correction of Heritable Epigenetic Defects Using Editing Tools.International journal of molecular sciences · 2021Review
- The Epigenome in Neurodevelopmental Disorders.Frontiers in neuroscience · 2021Review
- Detection of haplotype-dependent allele-specific DNA methylation in WGBS data.Nature communications · 2020Article
- A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.American journal of human genetics · 2020Article
24 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders that are caused by the loss of function of imprinted genes in 15q11-q13. In a small group of patients, the disease is due to aberrant imprinting and gene silencing. Here, we describe the molecular analysis of 51 patients with PWS and 85 patients with AS who have such a defect. Seven patients with PWS (14%) and eight patients with AS (9%) were found to have an imprinting center (IC) deletion. Sequence analysis of 32 patients with PWS and no IC deletion and 66 patients with AS and no IC deletion did not reveal any point mutation in the critical IC elements. The presence of a faint methylated band in 27% of patients with AS and no IC deletion suggests that these patients are mosaic for an imprinting defect that occurred after fertilization. In patients with AS, the imprinting defect occurred on the chromosome that was inherited from either the maternal grandfather or grandmother; however, in all informative patients with PWS and no IC deletion, the imprinting defect occurred on the chromosome inherited from the paternal grandmother. These data suggest that this imprinting defect results from a failure to erase the maternal imprint during spermatogenesis.
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