Dysregulated histone acetylation causes congenital diseases

Epigenetic mechanisms are essential for regulating gene expression, altering chromatin structure, and regulating gene transcription without altering the underlying nucleotide sequence. Cell differentiation and development are associated with reversible gene expression. Critical epigenetic mechanisms involve histone-modifying enzymes, such as acetyltransferases, and those involved in DNA methylation. During development, gene expression in individual cells changes in response to their programs and signals from surrounding cells, ultimately determining cell fate. In this review, I discuss developmental syndromes, such as neuronal disorders and congenital abnormalities, caused by mutations in genes that control epigenetic information. Mutations in these genes often occur de novo, with some symptoms evident only in homozygotes and others manifesting in heterozygotes. In many cases, symptoms are observed only in specific tissues despite the presence of widespread gene mutations.