ArticleJournal of neurodevelopmental disorders2009
Variable phenotypic expression of a MECP2 mutation in a family.
Article in Journal of neurodevelopmental disorders, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 36 citations in OpenAlex.
- Translational reading frame predicts the pathogenicity of C-terminal frameshift deletions in MeCP2.eLife · 2026Article
- Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach.bioRxiv : the preprint server for biology · 2025Article
- MECP2 Variants in Males: More Common than Previously Appreciated.Pediatric neurology · 2024Article
- Rett syndrome.Nature reviews. Disease primers · 2024Review
- Rett Syndrome: The Emerging Landscape of Treatment Strategies.CNS drugs · 2024Review
- Rett Syndrome andNeuropsychiatric disease and treatment · 2022Review
- The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2019Article
- A perspective on "cure" for Rett syndrome.Orphanet journal of rare diseases · 2018Article
- Familial cases and male cases with MECP2 mutations.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017Article
- Progress in Rett Syndrome: from discovery to clinical trials.Wiener medizinische Wochenschrift (1946) · 2016Article
- Rett Syndrome: Reaching for Clinical Trials.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2015Review
- MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives.Degenerative neurological and neuromuscular disease · 2015Review
- Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives.Current clinical pharmacology · 2013Review
- Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.American journal of medical genetics. Part A · 2013Article
- Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.Orphanet journal of rare diseases · 2011Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
We report a three generation family in which five members, three females and two males, demonstrate a 44 bp deletion (1164-1207del44) in the MECP2 gene associated with Rett syndrome, leading to a truncation of the C-terminus of the protein. Two of the three females and both males do not meet RTT criteria whereas the youngest female has classic RTT. Both males demonstrated a clear pattern of progressive involvement including dystonia. The transmitting females do not demonstrate features of RTT as a result of unbalanced X chromosome inactivation (XCI) and were only identified as carriers following the evaluation of the affected males and the girl with classic RTT. As such, accurate assessment of the precise frequency of MECP2 mutations in carrier females with mild cognitive impairment or borderline cognitive function will be under-represented unless an affected offspring is recognized. Strategies for accurate diagnosis in such instances should be considered carefully.
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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.