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Article

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

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Aug 2009

Zhu Xing-wang, Pan Hong, Li Mei-rong, Bao Xin-hua, Zhang Jing-jing, Wu Xi-ru

Abstract excerpt

OBJECTIVE: Rett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females as sporadic cases due to de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Familial cases of RTT are rare and are due to X-chromosomal inheritance from a carrier mother. Recently, DNA mutations in the MECP2 have been detected in approximately 84.7% of patients with RTT in China. To explain the...

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Identifiers

PMID: 19951486

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.

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