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Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
Open accessAbstract
Objective To determine if a relationship exists between the clinical features of Rett syndrome, an X-linked dominant neurodevelopmental disorder, and specific mutations in MECP2. Method Cross-sectional study of 245 girls and women with typical Rett syndrome seen between 1990 and 2004 in tertiary academic outpatient specialty clinics and who had complete MECP2 mutation analysis. A structured clinical evaluation was completed for each participant. The results were grouped by MECP2 mutation and compared. Results Participants with the R133C mutation are less severely affected than those with R168X or large DNA deletions (p Conclusions Specific mutations in MECP2 confer different severity. These results allow the design of therapies targeted toward the amelioration of expected problems. Furthermore, the distinct effects of MECP2 mutations on clinical severity must be considered in clinical intervention trials.
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“Therefore, MECP2 mutation status is a strong predictor of disease severity, but phenotype variation commonly occurs between individuals with the same MECP2 mutation and is attributed to differences in X chromosome inactivation (XCI) [97].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [38]
In the citing paper
“It is now well established that mutations in MECP2 account for 95% of typical RTT cases and commonly occur de novo [36–38].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [38]
In the citing paper
“It is now well established that mutations in MECP2 account for 95% of typical RTT cases and commonly occur de novo [36–38].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [38]
In the citing paper
“Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator.”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [38]
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Metadata
- Authors
- Neul, J. L., Fang, P., Barrish, J., Lane, J., Caeg, E. B., Smith, E. O., Zoghbi, H., Percy, A., & Glaze, D. G.
- Affiliations
- University of Alabama (US)
- Venue
- Neurology
- Published
- 2008-04-15
- Volume
- 70
- Issue
- 16
- Pages
- 1313-1321
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC2677974
- OpenAlex
- W2066619092
- Cited by
- 498
- References
- 38
- Citations by year
- 2026: 19 · 2025: 29 · 2024: 45 · 2023: 33 · 2022: 23 · 2021: 35 · 2020: 29 · 2019: 24 · 2018: 24 · 2017: 27 · 2016: 30 · 2015: 29 · 2014: 23 · 2013: 33 · 2012: 20
- FWCI
- 14.09
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- University of Alabama at Birmingham
- National Institute of Neurological Disorders and Stroke (K08NS052240, NS057819, T32NS043124, NS43124, NS052240, R01NS057819)
- National Center for Research Resources (U54RR019478, RR-019478, RR 00188, K01RR000188, M01RR000188)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-38985, P30HD038985, HD40301, P01HD040301)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- Rett syndrome, MECP2 mutations, clinical severity, DNA deletion, ambulation, hand use, language development
- MeSH terms
- Cross-Sectional Studies, Female, Humans, Mutation, Severity of Illness Index, Rett Syndrome, Methyl-CpG-Binding Protein 2
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