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Article

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.

American journal of medical genetics. Part A - 1 Nov 2016

Zahir Farah R, Tucker Tracy, Mayo Sonia, Brown Carolyn J, Lim Emilia L, Taylor Jonathan, Marra Marco A, Hamdan Fadi F, Michaud Jacques L, Friedman Jan M

Abstract excerpt

The disruption of genes involved in epigenetic regulation is well known to cause Intellectual Disability (ID). We reported a custom microarray study that interrogated among others, the epigenetic regulatory gene-class, at single exon resolution. Here we elaborate on identified intragenic CNVs involving epigenetic regulatory genes; specifically discussing those in three genes previously unreported in ID...

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Share to DNA Copy Number Variations
Share to DNA Methylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epigenesis, Genetic

Share to Gene Duplication

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Share to Jumonji Domain-Containing Histone Demethylases

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Source

Identifiers

PMID: 27748065
DOI: 10.1002/ajmg.a.37669

Genes

JARID2
ARID2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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