ArticleJournal of autism and developmental disorders2014
Brief report: MECP2 mutations in people without Rett syndrome.
Article in Journal of autism and developmental disorders, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 31 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Biobanking of Rett Syndrome and Related Disorders Protocol
Rett Syndrome, MECP2 Duplication Disorder, and Rett- Related Disorders Natural History Protocol
Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- Evidence Synthesis of Gene Therapy and Gene Editing from Different Disorders-Implications for Individuals with Rett Syndrome: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome.Journal of neurodevelopmental disorders · 2026Article
- Article
- Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome.Research square · 2025Article
- Molecular Insights into Neurological Regression with a Focus on Rett Syndrome-A Narrative Review.International journal of molecular sciences · 2025Review
- Epigenetics in evolution and adaptation to environmental challenges: pathways for disease prevention and treatment.Epigenomics · 2025Review
- Cell type-specific 3D-genome organization and transcription regulation in the brain.Science advances · 2025Article
- Integrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome.Scientific reports · 2025Article
- The Newborn Screening Programme Revisited: An Expert Opinion on the Challenges of Rett Syndrome.Genes · 2024Article
- Rett syndrome.Nature reviews. Disease primers · 2024Review
- Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders.Annals of neurology · 2024Review
- Human microglial cells as a therapeutic target in a neurodevelopmental disease model.Stem cell reports · 2024Article
- Using Precision Medicine to Disentangle Genotype-Phenotype Relationships in Twins with Rett Syndrome: A Case Report.Current issues in molecular biology · 2024Article
- Parental age effects and Rett syndrome.American journal of medical genetics. Part A · 2024Article
- Rett syndrome in Ireland: a demographic study.Orphanet journal of rare diseases · 2024Article
- Methyl-CpG-Binding Protein 2 Emerges as a Central Player in Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorders.Cellular and molecular neurobiology · 2023Review
- MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.BMC medicine · 2023Article
- Rett Syndrome andNeuropsychiatric disease and treatment · 2022Review
- Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.Scientific reports · 2020Article
- Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome.Journal of autism and developmental disorders · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in Methyl-CpG-Binding protein 2 (MECP2) are commonly associated with the neurodevelopmental disorder Rett syndrome (RTT). However, some people with RTT do not have mutations in MECP2, and interestingly there have been people identified with MECP2 mutations that do not have the clinical features of RTT. In this report we present four people with neurodevelopmental abnormalities and clear RTT-disease causing MECP2 mutation but lacking the characteristic clinical features of RTT. One patient's symptoms suggest an extension of the known spectrum of MECP2 associated phenotypes to include global developmental delay with obsessive compulsive disorder and attention deficit hyperactivity disorder. These results reemphasize that RTT should remain a clinical diagnosis, based on the recent consensus criteria.
Indexed as
Identifiers
What OpenQuestion holds
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.