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Article

The role of X-chromosome inactivation in the manifestation of Rett syndrome.

Brain & development - 1 Dec 2001

Takagi N

Abstract excerpt

X-chromosome inactivation (XCI) is random in the majority of patients with classical Rett syndrome (RTT). Preferential inactivation of the X chromosome with the mutated MECP2 gene is found in mildly symptomatic or asymptomatic carrier females. These findings lead to a hypothesis that random XCI is causally involved in the pathogenesis of RTT in heterozygous females. It is the cluster of functionally defective...

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Share to Central Nervous System
Share to Chromosomal Proteins, Non-Histone
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Dosage Compensation, Genetic

Share to Methyl-CpG-Binding Protein 2

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Source

Identifiers

PMID: 11738869
DOI: 10.1016/s0387-7604(01)00362-x

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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The role of X-chromosome inactivation in the manifestation of Rett syndrome.PMID 11738869Read ↗

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.Semantic proximity Read ↗

X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome.Semantic proximity Read ↗

X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.Semantic proximity Read ↗

Analysis of X-inactivation status in a Rett syndrome natural history study cohort.Semantic proximity Read ↗

MECP2 mutations account for most cases of typical forms of Rett syndrome.Semantic proximity Read ↗

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.Semantic proximity Read ↗

[X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome].Semantic proximity Read ↗

The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome.Semantic proximity Read ↗

A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease.Semantic proximity Read ↗

Genetic basis of Rett syndrome.Semantic proximity Read ↗

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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.Semantic proximity Read ↗

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