ArticleJournal of medical genetics2001
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.
Article in Journal of medical genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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.
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Who cites it
19 citing papers in PubMed, 99 citations in OpenAlex.
- Article
- MECP2 Variants in Males: More Common than Previously Appreciated.Pediatric neurology · 2024Article
- Epilepsy and genetic in Rett syndrome: A review.Brain and behavior · 2019Article
- Rett syndrome: a neurological disorder with metabolic components.Open biology · 2018Review
- Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.Omics : a journal of integrative biology · 2017Article
- Functional Profiling of Human MeCP2 by Automated Data Comparison Analysis and Computerized Expression Pathway Modeling.Healthcare informatics research · 2016Article
- Rett syndrome: disruption of epigenetic control of postnatal neurological functions.Human molecular genetics · 2015Review
- Article
- Regulatory functions and pathological relevance of the MECP2 3'UTR in the central nervous system.Cell regeneration (London, England) · 2015Article
- Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation.BMC neuroscience · 2010Article
- A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.Human molecular genetics · 2008Article
- MECP2 mutations in males.Journal of medical genetics · 2007Review
- Specific genetic disorders and autism: clinical contribution towards their identification.Journal of autism and developmental disorders · 2005Review
- Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.American journal of human genetics · 2004Article
- Rett syndrome: the complex nature of a monogenic disease.Journal of molecular medicine (Berlin, Germany) · 2003Review
- Angelman syndrome: a review of the clinical and genetic aspects.Journal of medical genetics · 2003Review
- MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology · 2003Article
- Distinct phenotypes distinguish the molecular classes of Angelman syndrome.Journal of medical genetics · 2001Article
- Rett syndrome and the MECP2 gene.Journal of medical genetics · 2001Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To study the clinical overlap between Rett (RTT) and Angelman syndromes (AS), we screened the MECP2 gene in a cohort of 78 patients diagnosed as possible AS but who showed a normal methylation pattern at the UBE3A locus. MECP2 missense (R106W, G428S), nonsense (R255X, R270X), and frameshift mutations (803 delG) were identified in 6/78 patients including 4/6 female cases consistent with RTT, one female case with progressive encephalopathy of neonatal onset, and one isolated male case with non-fatal, non-progressive encephalopathy of neonatal onset. This study shows that MECP2 mutations can account for a broad spectrum of clinical presentations and raises the difficult issue of the screening of the MECP2 gene in severe encephalopathy in both males and females.
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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.