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Article

Spectrum of MECP2 mutations in Rett syndrome.

Genetic testing - 1 Jan 2002

Bienvenu Thierry, Villard Laurent, De Roux Nicolas, Bourdon Violaine, Fontes Michel, Beldjord Cherif, Tardieu Marc, Jonveaux Philippe, Chelly Jamel

Abstract excerpt

Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy. We have collected the results of MECP2 analysis conducted in four laboratories in France. A total of 301 RTT alleles have been analyzed, demonstrating a total of 69 different mutations so far observed and accounting for 64% of MECP2 genes in RTT patients living...

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Source

Identifiers

PMID: 12180070
DOI: 10.1089/109065702760093843

Genes

MECP2

Variants

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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