Recurrent copy number variations (CNVs) are structural large gains and losses of chromosomal domains that are emerging as a major contributor to human neurodevelopmental disorders, such as intellectual disability, autism, schizophrenia, and bipolar disorders. Among the most commonly causal CNVs observed in neurodevelopmental disorders are the rearrangements of proximal chromosome 15q, resulting in Angelman, Prader-Willi, and 15q duplication syndromes. This locus also involves multiple epigenetic layers that influence parental imprinting in the inheritance of these disorders. This chapter summarizes the known CNVs associated with human neurodevelopmental disorders and discusses how epigenetic mechanisms play a role in regulating the genes implicated in these loci. Furthermore, we discuss the epigenetic layer of DNA methylation and its potential role in breakpoint instability in recent primate evolution.
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)