Cited by 499Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesAutism Spectrum Disorder Research

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Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

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Neul, J. L., Fang, P., Barrish, J., Lane, J., Caeg, E. B., Smith, E. O., Zoghbi, H., Percy, A., Glaze, D. G.·2008·Neurology

DOI 10.1212/01.wnl.0000291011.54508.aaPMC PMC2677974

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Abstract

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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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
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MECP2 mutations account for most cases of typical forms of Rett syndrome
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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)
ORCID: Neul, J. L.
Fang, P.
Lane, J.
Smith, E. O.
Zoghbi, H.
Percy, A.
Glaze, D. G.
Venue: Neurology
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2008-04-15
Volume: 70
Issue: 16
Pages: 1313-1321
ISSN: 0028-3878 (ISSN-L)
1526-632X
DOI: 10.1212/01.wnl.0000291011.54508.aa
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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Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

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