ArticleHuman mutation2018
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Profiling metabotropic glutamate receptor 7 expression in Rett syndrome: consequences for pharmacotherapy.Neuroscience · 2026Article
- Reciprocal regulation of the HbioRxiv : the preprint server for biology · 2025Article
- Sleep Disorders in Children with Rett Syndrome.Children (Basel, Switzerland) · 2025Review
- Behavioral and Psychiatric Disorders in Syndromic Autism.Brain sciences · 2024Review
- A resource to explore the discovery of rare diseases and their causative genes.Scientific data · 2021Article
- A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.Scientific data · 2021Article
- Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome.Journal of autism and developmental disorders · 2020Article
- Parkinsonism, Intellectual Disability, and Catatonia in a Young Male WithMovement disorders clinical practice · 2020Article
- Detection of Rare Methyl-CpG Binding Protein 2 Gene Missense Mutations in Patients With Schizophrenia.Frontiers in genetics · 2020Article
- AD7c-NTP Impairs Adult Striatal Neurogenesis by Affecting the Biological Function of MeCP2 in APP/PSl Transgenic Mouse Model of Alzheimer's Disease.Frontiers in aging neuroscience · 2020Article
- MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases.Human mutation · 2018Article
- VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia.Molecular cytogenetics · 2018Review
- Novel advanced patient-derivedFrontiers in neurologyReview
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rett syndrome (RTT) is a monogenic rare disorder that causes severe neurological problems. In most cases, it results from a loss-of-function mutation in the gene encoding methyl-CPG-binding protein 2 (MECP2). Currently, about 900 unique MECP2 variations (benign and pathogenic) have been identified and it is suspected that the different mutations contribute to different levels of disease severity. For researchers and clinicians, it is important that genotype-phenotype information is available to identify disease-causing mutations for diagnosis, to aid in clinical management of the disorder, and to provide counseling for parents. In this study, 13 genotype-phenotype databases were surveyed for their general functionality and availability of RTT-specific MECP2 variation data. For each database, we investigated findability and interoperability alongside practical user functionality, and type and amount of genetic and phenotype data. The main conclusions are that, as well as being challenging to find these databases and specific MECP2 variants held within, interoperability is as yet poorly developed and requires effort to search across databases. Nevertheless, we found several thousand online database entries for MECP2 variations and their associated phenotypes, diagnosis, or predicted variant effects, which is a good starting point for researchers and clinicians who want to provide, annotate, and use the data.
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