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Article

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

European journal of medical genetics - 1 Jan 2000

Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond J P, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T

Abstract excerpt

Mutations in the MECP2 (Methyl-CpG-binding protein) gene have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy. Recent studies have identified large gene rearrangements that escape the common PCR-based mutation screening strategy and mutations in a novel MeCP2 isoform (named MECP2B). We have collected the results of MECP2 mutational analysis concerning 424 RTT patients conducted...

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Source

Identifiers

PMID: 16473305
DOI: 10.1016/j.ejmg.2005.04.003

Genes

MECP2

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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