ArticleScientific reports2019
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants.Journal of neurology · 2026Article
- Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype.Current issues in molecular biology · 2025Review
- Optimized clonal isolation and immortalization of Rett syndrome patient fibroblasts for in vitro modeling of MECP2 mutations.Scientific reports · 2025Article
- Article
- Rett syndrome.Nature reviews. Disease primers · 2024Review
- Article
- Adenosinergic System and BDNF Signaling Changes as a Cross-Sectional Feature of RTT: Characterization ofInternational journal of molecular sciences · 2023Article
- Skewed X-inactivation is associated with retinal dystrophy in female carriers ofLife science alliance · 2023Article
- Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.The lancet. Diabetes & endocrinology · 2023Article
- Long noncoding RNAGenes & diseases · 2022Review
- Molecular Research in Medical Genetics.International journal of molecular sciences · 2022Article
- The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders.Brain sciences · 2021Review
- Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy.Biomedicines · 2021Article
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11 authors at 20 institutions in 5 countries.
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Abstract
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern.
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