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Article

X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.

Journal of child neurology - 1 Jan 2008

Xinhua Bao, Shengling Jiang, Fuying Song, Hong Pan, Meirong Li, Wu Xi-Ru

Abstract excerpt

Rett syndrome (RTT) is an X-linked dominant neurodevelopment disorder, which is mainly caused by gene mutation of methyl-CpG-binding protein 2 (MECP2). The correlations between genotype, X chromosome inactivation (XCI), and phenotype have been studied, but the results are conflicting. In the present study, XCI patterns in patients and their mothers, parental origin of skewed X chromosome in patients, and the...

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Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18184939
DOI: 10.1177/0883073807307077

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.PMID 18184939Read ↗

[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 ↗

Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.Semantic proximity Read ↗

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

Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.Semantic proximity Read ↗

MECP2 and beyond: phenotype-genotype correlations in Rett syndrome.Semantic proximity Read ↗

The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome.Semantic proximity Read ↗

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

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

Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome.Semantic proximity Read ↗

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.Semantic proximity Read ↗

Familial cases and male cases with MECP2 mutations.Semantic proximity Read ↗

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