ArticleNeurology2008
Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.
Article in Neurology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 6 registered trials, which are not on this map. Cited by 285 papers, 4 of them syntheses 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.
Rett Syndrome Natural History: Genetic and Physical Characteristics of Rett Syndrome
Biobanking of Rett Syndrome and Related Disorders Protocol
Rett Syndrome, MECP2 Duplication Disorder, and Rett- Related Disorders Natural History Protocol
A Randomised, Double-Blind, Placebo-Controlled 6-month Study to Evaluate the Efficacy, Safety, and Tolerability of Sarizotan in Patients With Rett Syndrome With Respiratory Symptoms
Rett Syndrome, MECP2 Duplication, and Rett-Related Disorders Consortium, Rare Disease Clinical Research Network: Neurophysiologic Correlates
An Intensive Anti-Scoliosis Postural Intervention Supported by an Application for Individuals With Rett Syndrome
Who cites it
285 citing papers in PubMed, 4 syntheses or guidelines pooled it, 495 citations in OpenAlex.
- Is trofinetide a future treatment for Rett syndrome? A comprehensive systematic review and meta-analysis of randomized controlled trials.BMC medicine · 2024Pooled it
- Endocrine disorders in Rett syndrome: a systematic review of the literature.Frontiers in endocrinology · 2024Pooled it
- Quality of life related to clinical features in patients with Rett syndrome and their parents: a systematic review.Metabolic brain disease · 2018Pooled it
- Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence.PloS one · 2016Pooled it
- Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.Annals of neurology · 2020Trial
- Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent.Journal of genetics · 2020Trial
- Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome.Neurology · 2019Trial
- Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale.Journal of child neurology · 2015Trial
- Fenfluramine in Rett syndrome: A multidimensional clinical study.Epilepsia open · 2026Article
- Carotid body dysfunction contributes to respiratory instability in Rett syndrome.Current biology : CB · 2026Article
- Structures of MeCP2 bound to nucleosomes reveal distinct mechanisms of Rett syndrome mutations.bioRxiv : the preprint server for biology · 2026Article
- Programmable CRISPRtune dissects the transcriptional repressive activity of MeCP2.bioRxiv : the preprint server for biology · 2026Article
- Variability in sensory processing and evoked potentials in Rett syndrome.medRxiv : the preprint server for health sciences · 2026Article
- DNA methylation, nucleic acid structure, and rett mutations tune MeCP2 binding affinity and cooperativity.The Journal of biological chemistry · 2026Article
- Neural peer pressure: intercellular dynamics and emergent phenotypes in the mosaic Rett syndrome brain.Cell communication and signaling : CCS · 2026Review
- MECP2 Variant Spectrum and Genotype-Phenotype Correlations in Iranian Rett Syndrome Patients: Identification of a Novel Frameshift Mutation.Journal of molecular neuroscience : MN · 2026Article
- Female cortical cellular mosaicism underlies shared MeCP2 and PCB impacted gene pathways.iScience · 2026Article
- MECP2 mutations rewire human ESC fate and bias cortical lineage commitment.Stem cell reports · 2026Article
- MECP2 mutations disrupt pluripotent stem cell fate through remodeling of the three-dimensional genome.Cell death & disease · 2026Article
- Early differential impact of MeCP2 mutations on functional networks in Rett syndrome patient-derived human cortical organoids.Nature communications · 2026Article
225 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo determine if a relationship exists between the clinical features of Rett syndrome, an X-linked dominant neurodevelopmental disorder, and specific mutations in MECP2.
methodCross-sectional study of 245 girls and women with typical Rett syndrome seen between 1990 and 2004 in tertiary academic outpatient specialty clinics and who had complete MECP2 mutation analysis. A structured clinical evaluation was completed for each participant. The results were grouped by MECP2 mutation and compared.
resultsParticipants with the R133C mutation are less severely affected than those with R168X or large DNA deletions (p < 0.05). Likewise, individuals with the R168X mutation are more severely affected than those with R294X and late carboxy-terminal truncating mutations (p < 0.05). Clinical differences are notable in ambulation, hand use, and language (p < 0.004), three cardinal features of Rett syndrome. Individuals with R168X are less likely to walk (p = 0.008), retain hand use (p = 0.002), or use words (p = 0.001). In contrast, those with carboxy-terminal truncations are more likely to walk (p = 0.007) and use words (p < 0.001). The R306C mutation, previously found to confer milder features, adversely affects only one clinical feature, language (p < 0.05).
conclusionsSpecific mutations in MECP2 confer different severity. These results allow the design of therapies targeted toward the amelioration of expected problems. Furthermore, the distinct effects of MECP2 mutations on clinical severity must be considered in clinical intervention trials.
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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.