ArticleEuropean journal of human genetics : EJHG2009
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 98 citations in OpenAlex.
- New insights into the (epi)genetics of twinning.Human reproduction (Oxford, England) · 2024Pooled it
- Concordant epigenetic and discordant clinical PHP1B/iPPSD3 manifestations in two monozygotic adolescent twins.Clinical epigenetics · 2026Article
- Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.Clinical epigenetics · 2024Article
- Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.Clinical epigenetics · 2024Review
- Imprinting disorders.Nature reviews. Disease primers · 2023Review
- Placental DNA methylation in pregnancies complicated by maternal diabetes and/or obesity: State of the art and research gaps.Epigenetics · 2022Review
- Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders.Molecular diagnosis & therapy · 2022Article
- Sporadic Pseudohypoparathyroidism Type 1B in Monozygotic Twins: Insights Into the Pathogenesis of Methylation Defects.The Journal of clinical endocrinology and metabolism · 2022Article
- Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.Cold Spring Harbor molecular case studies · 2021Article
- Article
- Identical twins carry a persistent epigenetic signature of early genome programming.Nature communications · 2021Article
- Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.International journal of molecular sciences · 2021Review
- (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
- Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome.American journal of medical genetics. Part A · 2019Article
- DNA methylation signatures of monozygotic twins clinically discordant for multiple sclerosis.Nature communications · 2019Article
- Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.Nature reviews. Genetics · 2019Review
- Diagnosis and Management of Beckwith-Wiedemann Syndrome.Frontiers in pediatrics · 2019Review
- Effect of abnormal GpG methylation in the second trimester of pregnancy on adverse health risk of offspring.Experimental and therapeutic medicine · 2018Article
- Maternal variants inJournal of medical genetics · 2018Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Beckwith-Wiedemann syndrome (BWS) is a growth disorder for which an increased frequency of monozygotic (MZ) twinning has been reported. With few exceptions, these twins are discordant for BWS and for females. Here, we describe the molecular and phenotypic analysis of 12 BWS twins and a triplet; seven twins are MZ, monochorionic and diamniotic, three twins are MZ, dichorionic and diamniotic and three twins are dizygotic. Twelve twins are female. In the majority of the twin pairs (11 of 13), the defect on chromosome 11p15 was hypomethylation of the paternal allele of DMR2. In 5 of 10 twins, there was additional hypomethylation of imprinted loci; in most cases, the loci affected were maternally methylated, but in two cases, hypomethylation of the paternally methylated DLK1 and H19 DMRs was detected, a novel finding in BWS. In buccal swabs of the MZ twins who share a placenta, the defect was present only in the affected twin; comparable hypomethylation in lymphocytes was detected in both the twins. The level of hypomethylation reached levels below 25%. The exchange of blood cells through vascular connections cannot fully explain the degree of hypomethylation found in the blood cell of the non-affected twin. We propose an additional mechanism through which sharing of aberrant methylation patterns in discordant twins, limited to blood cells, might occur. In a BWS-discordant MZ triplet, an intermediate level of demethylation was found in one of the non-affected sibs; this child showed mild signs of BWS. This finding supports the theory that a methylation error proceeds and possibly triggers the twinning process.
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