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Article

High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation.

Journal of molecular neuroscience : MN - 1 May 2010

Campos Mário, Churchman Sarah M, Santos-Rebouças Cíntia Barros, Ponchel Frederique, Pimentel Márcia Mattos Gonçalves

Abstract excerpt

Structural variations that affect the copy number of the MECP2 gene were shown to cause mental retardation in males by driving the overexpression of this gene. To access the impact of these rearrangements in males with unexplained mental retardation, we have performed a quantitative real-time pol...

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Source

Identifiers

PMID: 19806472
DOI: 10.1007/s12031-009-9296-2

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19806472-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation.PMID 19806472Read ↗

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 ↗

The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males.Semantic proximity Read ↗

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MECP2 duplication syndrome in both genders.Semantic proximity Read ↗

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 ↗

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

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

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