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Article

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.

Neurogenetics - 1 Jul 2010

Cukier Holly N, Rabionet Raquel, Konidari Ioanna, Rayner-Evans Melissa Y, Baltos Mary L, Wright Harry H, Abramson Ruth K, Martin Eden R, Cuccaro Michael L, Pericak-Vance Margaret A, Gilbert John R

Abstract excerpt

Misregulation of the methyl-CpG-binding protein 2 (MECP2) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and Rett syndrome. We hypothesized that mutations in other members of the methyl-CpG-binding domain (MBD) family may also cause autistic features in individuals. We evaluated 226 autistic individuals for alterations in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 19921286
DOI: 10.1007/s10048-009-0228-7
PMCID: PMC2941261

Genes

MBD3
MBD4
MECP2
MBD1
MBD2

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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