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Article

MECP2 is highly mutated in X-linked mental retardation.

Human molecular genetics - 15 Apr 2001

Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, Verloes A, Andrès C, Le Fevre A C, Souville I, Steffann J, des Portes V, Ropers H H, Yntema H G, Fryns J P, Briault S, Chelly J, Cherif B

Abstract excerpt

Following the recent discovery that the methyl-CpG binding protein 2 (MECP2) gene located on Xq28 is involved in Rett syndrome (RTT), a wild spectrum of phenotypes, including mental handicap, has been shown to be associated with mutations in MECP2. These findings, with the compelling genetic evid...

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Topics

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Share to Chromosomal Proteins, Non-Histone
Share to CpG Islands
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Methyl-CpG-Binding Protein 2

Share to Rett Syndrome

Share to RNA-Binding Proteins

Share to X Chromosome

Source

Identifiers

PMID: 11309367
DOI: 10.1093/hmg/10.9.941

Genes

MECP2
FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11309367-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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MECP2 is highly mutated in X-linked mental retardation.PMID 11309367Read ↗

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.Semantic proximity Read ↗

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