ReviewJournal of medical genetics2007
MECP2 mutations in males.
Review in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
64 citing papers in PubMed, 165 citations in OpenAlex.
- Real-World Demographics, Clinical Characteristics, and Predictors of Persistence Among Males with Rett Syndrome Treated with Trofinetide.Advances in therapy · 2026Article
- MECP2Science China. Life sciences · 2026Article
- Neural peer pressure: intercellular dynamics and emergent phenotypes in the mosaic Rett syndrome brain.Cell communication and signaling : CCS · 2026Review
- Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome.Annals of clinical and translational neurology · 2026Article
- Modulating alternative splicing ofScience translational medicine · 2026Article
- Pediatric intestinal pseudo-obstruction found in 3-year-old male with Rett-related mutation of methyl-CpG binding protein 2.JPGN reports · 2026Article
- Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients.Journal of autism and developmental disorders · 2025Observational
- Broadening the Phenotype Spectrum of MECP2 Variants in Men.Molecular genetics & genomic medicine · 2025Article
- Article
- RettDb: the Rett syndrome omics database to navigate the Rett syndrome genomic landscape.Database : the journal of biological databases and curation · 2024Article
- The Alpha-Synuclein Gene (SNCA) is a Genomic Target of Methyl-CpG Binding Protein 2 (MeCP2)-Implications for Parkinson's Disease and Rett Syndrome.Molecular neurobiology · 2024Article
- The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.American journal of human genetics · 2024Article
- The Use of tDCS in a Patient with MECP2 Gene Mutation Presenting with Recurrent Catatonia: A Case Report.Indian journal of psychological medicine · 2024Article
- Article
- Mitochondrial Proteome Changes in Rett Syndrome.Biology · 2023Article
- MeCP2 dysfunction prevents proper BMP signaling and neural progenitor expansion in brain organoid.Annals of clinical and translational neurology · 2023Article
- Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications.Frontiers in psychiatry · 2023Article
- Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale.Orphanet journal of rare diseases · 2022Article
- Review
- Proteomic and transcriptional changes associated with MeCP2 dysfunction reveal nodes for therapeutic intervention in Rett syndrome.Neurochemistry international · 2021Review
4 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10,000 female births, and it is a prominent cause of profound mental handicap in women. RS is caused by mutations in the X-linked methyl CpG-binding protein 2 (MECP2) gene. These mutations were initially thought to be lethal in males. However, MECP2 mutations are now frequently identified in mentally retarded male patients. The frequency of disease-causing MECP2 mutations in this population is between 1.3% and 1.7%. Surprisingly, MECP2 mutations in males are responsible for a wide spectrum of neurological disorders, ranging from mild mental retardation to severe neonatal encephalopathy. The aim of this review is to describe the nature of the MECP2 mutations identified in male patients to date and their associated phenotypes.
Indexed as
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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.