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Article

Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.

Journal of human genetics - 1 Jan 2012

Honda Shozo, Satomura Shigeko, Hayashi Shin, Imoto Issei, Nakagawa Eiji, Goto Yu-ichi, Inazawa Johji

Abstract excerpt

Investigations of chromosomal rearrangements in patients with mental retardation (MR) are particularly informative in the search for genes involved in MR. Here we report a family with concomitant duplications of methyl CpG binding protein 2 (MECP2) at Xq28 and ATRX (the causative gene for X-linked alpha thalassemia/mental retardation) at Xq21.1 detected by array-comparative genomic hybridization. The alterations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22129561
DOI: 10.1038/jhg.2011.131

Genes

MECP2
ATRX

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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Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.PMID 22129561Read ↗

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

Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.Semantic proximity Read ↗

[X-linked alpha-thalassemia/mental retardation syndrome].Semantic proximity Read ↗

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