The Story of Rett Syndrome: From Clinic to Neurobiology

Chahrour, Maria; Zoghbi, Huda Y.

doi:10.1016/j.neuron.2007.10.001

Cited by 1,265Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesGenetic Neurodegenerative Diseases

The Story of Rett Syndrome: From Clinic to Neurobiology

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Chahrour, Maria, Zoghbi, Huda Y.·2007·Neuron

DOI 10.1016/j.neuron.2007.10.001

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Abstract

The postnatal neurodevelopmental disorder Rett syndrome (RTT) is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MeCP2), a transcriptional repressor involved in chromatin remodeling and the modulation of RNA splicing. MECP2 aberrations result in a constellation of neuropsychiatric abnormalities, whereby both loss of function and gain in MECP2 dosage lead to similar neurological phenotypes. Recent studies demonstrate disease reversibility in RTT mouse models, suggesting that the neurological defects in MECP2 disorders are not permanent. To investigate the potential for restoring neuronal function in RTT patients, it is essential to identify MeCP2 targets or modifiers of the phenotype that can be therapeutically modulated. Moreover, deciphering the molecular underpinnings of RTT is likely to contribute to the understanding of the pathogenesis of a broader class of neuropsychiatric disorders.

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In RS, both loss of function and gain in MeCP2 gene dosage lead to similar neurological phenotypes.
“In RS. both loss of function and gain in MeCP2 gene dosage lead to similar neurological phenotypes [698].”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [698]
MECP2 p.E483X is likely hypomorphic because MECP2 nonsense mutations are typically lethal in males and p.E483X is a late truncation predicted to remove only the last four amino acids.
“The finding of MECP2 nonsense mutations in this family was unusual since these are typically lethal in males (Chahrour and Zoghbi, 2007), suggesting that this allele is likely hypomorphic. Consistent with this idea, p.E483X is a late truncation predicted to remove only the last four amino acids of the full-length protein.”
From Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) · cites this paper as Chahrour and Zoghbi, 2007
Most affected individuals with Rett Syndrome are female heterozygotes who are somatic mosaics for normal and mutant MECP2.
“Most affected individuals are female heterozygotes who are somatic mosaics for normal and mutant MECP2 120 .”
From Developmental timing and critical windows for the treatment of psychiatric disorders (2016) · cites this paper as [120]

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“By analysing Mecp2 mutant animals and RTT post-mortem tissues, a reduction in brain volume was reported, mainly attributed to defects in neurons (Carli et al., 2023; Chahrour & Zoghbi, 2007; Naidu et al., 2001).”

Authors: Chahrour, M., & Zoghbi, H. Y.
Affiliations: Baylor College of Medicine (US)
Howard Hughes Medical Institute (US)
Corresponding author: Zoghbi, Huda Y.
ORCID: Chahrour, Maria
Zoghbi, Huda Y.
Venue: Neuron
Publisher: Elsevier BV
Published: 2007-11
Volume: 56
Issue: 3
Pages: 422-437
ISSN: 0896-6273 (ISSN-L)
DOI: 10.1016/j.neuron.2007.10.001
OpenAlex: W2152668149
Cited by: 1,265
References: 5
Citations by year: 2026: 42 · 2025: 48 · 2024: 52 · 2023: 45 · 2022: 49 · 2021: 57 · 2020: 65 · 2019: 52 · 2018: 48 · 2017: 78 · 2016: 84 · 2015: 88 · 2014: 86 · 2013: 99 · 2012: 107
FWCI: 6.08
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 2121 d)
Locations: Neuron (publishedVersion)
PubMed (publishedVersion)
Funders: McGill University
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD053862)
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 › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Keywords: Rett syndrome, MeCP2, neurodevelopmental disorders, chromatin remodeling, RNA splicing, neuropsychiatric abnormalities, disease reversibility, mouse model, therapeutic target, neuropsychiatric disorders
MeSH terms: Adolescent, Animals, Brain, Child, Child, Preschool, Disease Models, Animal, Female, Gene Expression Regulation, Humans, Infant, Male, Mutation, Phenotype, Rett Syndrome, Genetic Predisposition to Disease, X Chromosome Inactivation, Mice, Methyl-CpG-Binding Protein 2

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The Story of Rett Syndrome: From Clinic to Neurobiology

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