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Article

A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male.

Brain & development - 1 Feb 2009

Campos Mário, Abdalla Cláudia Bueno, dos Santos Adriana Vaz, Pestana Cristiane Pinheiro, dos Santos Jussara Mendonça, Santos-Rebouças Cíntia Barros, Pimentel Márcia Mattos Gonçalves

Abstract excerpt

MeCP2 is a protein that functions as a key factor in epigenetic transcriptional regulation. Mutations in MECP2 gene have been reported as being the major cause of Rett syndrome. These mutations may also cause a wide spectrum of neurological disorders in males. Here, we report the identification of the mutation p.P405L in a 19-year-old Brazilian male with mental retardation. This variant is localized in a highly...

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Share to Amino Acid Substitution
Share to Attention Deficit Disorder with Hyperactivity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18678449
DOI: 10.1016/j.braindev.2008.07.001

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.

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A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male.PMID 18678449Read ↗

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