ArticleEuropean journal of human genetics : EJHG2011
An atypical case of hypomethylation at multiple imprinted loci.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.Clinical epigenetics · 2024Review
- Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.American journal of medical genetics. Part A · 2022Article
- (Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.Molecular genetics & genomic medicine · 2020Article
- Preclinical and Clinical Epigenetic-Based Reconsideration of Beckwith-Wiedemann Syndrome.Frontiers in genetics · 2020Review
- Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Nature reviews. Endocrinology · 2018Review
- Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders.Epigenetics · 2018Article
- Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.Journal of clinical research in pediatric endocrinology · 2017Review
- Role of DNA methylation in imprinting disorders: an updated review.Journal of assisted reproduction and genetics · 2017Review
- An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.Journal of pediatric genetics · 2017Review
- Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?Journal of human genetics · 2016Article
- Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.Nature communications · 2015Article
- In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients.BioMed research international · 2015Article
- Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.Journal of molecular medicine (Berlin, Germany) · 2014Article
- No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.European journal of human genetics : EJHG · 2012Article
- The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility.ILAR journal · 2012Review
- Article
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Authors and funding
8 authors.
Funding
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Abstract
Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are caused by genetic and epigenetic mutations of the imprinted gene cluster on chromosome 15q13. Although the imprinting mutations causing PWS and AS are essentially opposite in nature, remarkably, a small number of patients have been reported with clinical features of PWS but epigenetic mutations consistent with AS. We report here a patient who presented with clinical features partially consistent with both PWS and Beckwith-Wiedemann syndrome (BWS). Epimutations were found at both the AS/PWS and BWS loci, and additionally at the H19, PEG3, NESPAS and GNAS loci. This patient is therefore the first described case with a primary epimutation consistent with AS accompanied by hypomethylation of other imprinted loci.
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