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Article

Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China.

Journal of child neurology - 1 Jul 2010

Zhu Xingwang, Li Meirong, Pan Hong, Bao Xinhua, Zhang Jingjing, Wu Xiru

Abstract excerpt

Rett syndrome is an X-linked neurodevelopmental disorder that predominantly affects females. It is caused by mutations in methyl-CpG-binding protein 2 gene. Due to the sex-limited expression, it has been suggested that de novo X-linked mutations may exclusively occur in male germ cells and thus only females are affected. In this study, the authors have analyzed the parental origin of mutations and the...

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Source

Identifiers

PMID: 20207612
DOI: 10.1177/0883073809350722

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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Research trail→

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Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China.PMID 20207612Read ↗

[Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in fifteen sporadic cases with Rett syndrome].Semantic proximity Read ↗

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.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 ↗

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?Semantic proximity Read ↗

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

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

[Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome].Semantic proximity Read ↗

Molecular characteristics of Chinese patients with Rett syndrome.Semantic proximity Read ↗

MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome.Semantic proximity Read ↗

Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research.Semantic proximity Read ↗

Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.Semantic proximity Read ↗

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

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