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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 evidence suggesting the presence in Xq28 of additional genes besides RabGDI1 and FMR2 involved in non-specific X-linked...

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Share to Fragile X Mental Retardation Protein

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Source

Identifiers

PMID: 11309367
DOI: 10.1093/hmg/10.9.941

Genes

MECP2
FMR1

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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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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