ArticlePloS one2013
Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 27 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Evidence for penetrance in patients without a family history of disease: a systematic review.European journal of human genetics : EJHG · 2020Pooled it
- Epigenetics in evolution and adaptation to environmental challenges: pathways for disease prevention and treatment.Epigenomics · 2025Review
- Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology.Nature reviews. Neurology · 2023Review
- Mitochondrial Proteome Changes in Rett Syndrome.Biology · 2023Article
- Transcriptomic and Epigenomic Landscape in Rett Syndrome.Biomolecules · 2021Review
- Genetic and environmental factors of schizophrenia and autism spectrum disorder: insights from twin studies.Journal of neural transmission (Vienna, Austria : 1996) · 2020Review
- Modeling Neurological Disorders with Human Pluripotent Stem Cell-Derived Astrocytes.International journal of molecular sciences · 2019Review
- Phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5.Journal of diabetes investigation · 2019Article
- Human iPSC application in Alzheimer's disease and Tau-related neurodegenerative diseases.Neuroscience letters · 2019Review
- Genetic Causes and Modifiers of Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2019Review
- Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders.Cell research · 2018Article
- Iroquois Homeodomain transcription factors in ventricular conduction system and arrhythmia.International journal of medical sciences · 2018Review
- Stem cell models of Alzheimer's disease: progress and challenges.Alzheimer's research & therapy · 2017Review
- Clinical Application of Picodroplet Digital PCR Technology for Rapid Detection of EGFR T790M in Next-Generation Sequencing Libraries and DNA from Limited Tumor Samples.The Journal of molecular diagnostics : JMD · 2016Article
- Epigenetic alterations induced by environmental stress associated with metabolic and neurodevelopmental disorders.Environmental epigenetics · 2016Review
- Prader-Willi Syndrome: The Disease that Opened up Epigenomic-Based Preemptive Medicine.Diseases (Basel, Switzerland) · 2016Review
- Tertiary Epimutations - A Novel Aspect of Epigenetic Transgenerational Inheritance Promoting Genome Instability.PloS one · 2016Article
- Functional outcomes in Rett syndrome.Brain & development · 2016Article
- Systematic chromatin state comparison of epigenomes associated with diverse properties including sex and tissue type.Nature communications · 2015Article
Corrections and comments
- Erratum issued
Authors and funding
17 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Monozygotic (identical) twins have been widely used in genetic studies to determine the relative contributions of heredity and the environment in human diseases. Discordance in disease manifestation between affected monozygotic twins has been attributed to either environmental factors or different patterns of X chromosome inactivation (XCI). However, recent studies have identified genetic and epigenetic differences between monozygotic twins, thereby challenging the accepted experimental model for distinguishing the effects of nature and nurture. Here, we report the genomic and epigenomic sequences in skin fibroblasts of a discordant monozygotic twin pair with Rett syndrome, an X-linked neurodevelopmental disorder characterized by autistic features, epileptic seizures, gait ataxia and stereotypical hand movements. The twins shared the same de novo mutation in exon 4 of the MECP2 gene (G269AfsX288), which was paternal in origin and occurred during spermatogenesis. The XCI patterns in the twins did not differ in lymphocytes, skin fibroblasts, and hair cells (which originate from ectoderm as does neuronal tissue). No reproducible differences were detected between the twins in single nucleotide polymorphisms (SNPs), insertion-deletion polymorphisms (indels), or copy number variations. Differences in DNA methylation between the twins were detected in fibroblasts in the upstream regions of genes involved in brain function and skeletal tissues such as Mohawk Homeobox (MKX), Brain-type Creatine Kinase (CKB), and FYN Tyrosine Kinase Protooncogene (FYN). The level of methylation in these upstream regions was inversely correlated with the level of gene expression. Thus, differences in DNA methylation patterns likely underlie the discordance in Rett phenotypes between the twins.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.