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Article

Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.

European journal of medical genetics - 1 Jan 2000

Lesca Gaëtan, Bernard Virginie, Bozon Muriel, Touraine Renaud, Gérard Daniel, Edery Patrick, Calender Alain

Abstract excerpt

Mental retardation affects 2 to 3% of the population and is marked by significant etiological heterogeneity, including genetic and non genetic causes. FRAXA (FMR1) trinucleotide expansion is widely searched in routine screening, but found in only about 2% of the patients tested. Mutations of the MECP2 (methyl-CpG-binding protein) gene mainly cause Rett syndrome but were also shown to be involved in mental...

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Source

Identifiers

PMID: 17383248
DOI: 10.1016/j.ejmg.2007.02.001

Genes

MECP2
FMR1

Variants

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.

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Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.PMID 17383248Read ↗

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