The DOI matches its Crossref record; 38 of the 38 references it cites were found in a registry or an index.
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]
Citations
Cites
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990
Self-citationAllen, R. C., Zoghbi, H. Y., Moseley, A., Rosenblatt, H. M., & Belmont, J. W. (1992) · PubMed · Cited by 1,683
Self-citationAn update on clinically applicable diagnostic criteria in Rett syndrome
Hagberg, B. A., Hanefeld, F. A., Percy, A. K., & Skjeldal, O. H. (2002) · European Journal of Paediatric Neurology · doi:10.1053/ejpn.2002.0612 · Cited by 394
Self-citationInfluence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
Amir, R. E., den Veyver, I. B. V., Schultz, R., Malicki, D. M., Tran, C. Q., Dahle, E. J., Philippi, A., Tímár, L., Percy, A. K., Motil, K. J., et al. (2000) · Annals of Neurology · doi:10.1002/1531-8249(200005)47:5 · Cited by 351
Self-citationRett syndrome in Australia: A review of the epidemiology
Laurvick, C. L., de Klerk, N. H., Bower, C. I., Christodoulou, J., Ravine, D., Ellaway, C., Williamson, S. L., & Leonard, H. (2006) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2005.10.037 · Cited by 345
Williams syndrome: From genotype through to the cognitive phenotype
Donnai, D., & Karmiloff‐Smith, A. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(200022)97:2 · Cited by 314
Self-citationMECP2 mutations account for most cases of typical forms of Rett syndrome
Bienvenu, T. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1377 · Cited by 303
Cheadle, J. P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.7.1119 · Cited by 288
MECP2 is highly mutated in X-linked mental retardation
Couvert, P. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.9.941 · Cited by 272
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients
Huppke, P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1369 · Cited by 246
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Cited by
Sorted by citations
Rett syndrome: Revised diagnostic criteria and nomenclature
Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi‐Buisson, N., Leonard, H., Bailey, M. E. S., Schanen, N. C., Zappella, M., et al. (2010) · Annals of Neurology · doi:10.1002/ana.22124 · Cited by 1,437
Self-citationThe Story of Rett Syndrome: From Clinic to Neurobiology
Chahrour, M., & Zoghbi, H. Y. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.001 · Cited by 1,265
Self-citationDysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
Chao, H.-T., Chen, H., Samaco, R. C., Xue, M., Chahrour, M., Yoo, J., Neul, J. L., Gong, S., Lu, H.-C., Heintz, N., et al. (2010) · Nature · doi:10.1038/nature09582 · Cited by 1,168
Self-citationZoghbi, H. Y., & Bear, M. F. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009886 · Cited by 797
Self-citationRett syndrome: a complex disorder with simple roots
Lyst, M. J., & Bird, A. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3897 · Cited by 353
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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