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Article

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

American journal of human genetics - 1 Sept 2005

Van Esch Hilde, Bauters Marijke, Ignatius Jaakko, Jansen Mieke, Raynaud Martine, Hollanders Karen, Lugtenberg Dorien, Bienvenu Thierry, Jensen Lars Riff, Gecz Jozef, Moraine Claude, Marynen Peter, Fryns Jean-Pierre, Froyen Guy

Abstract excerpt

Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males. By array comparative genomic hybridization (array-CGH), we identified a small duplication at Xq28 in a large family with a severe form of MR associated with progressive spasticity. Screening by real-time quantitation of 17 additional...

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Source

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Identifiers

PMID: 16080119
DOI: 10.1086/444549
PMCID: PMC1226209

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.PMID 16080119Read ↗

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.Semantic proximity Read ↗

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.Semantic proximity Read ↗

Genetic analysis of a pedigree with MECP2 duplication syndrome in ChinaSemantic proximity Read ↗

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.Semantic proximity Read ↗

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.Semantic proximity Read ↗

MECP2 and the biology of MECP2 duplication syndrome.Semantic proximity Read ↗

The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.Semantic proximity Read ↗

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.Semantic proximity Read ↗

MECP2 duplication: possible cause of severe phenotype in females.Semantic proximity Read ↗

Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.Semantic proximity Read ↗

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.Semantic proximity Read ↗

MECP2 is highly mutated in X-linked mental retardation.Semantic proximity Read ↗

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