Genetic imprinting is the process of epigenetic labelling or silencing of particular genes, based on the maternal or paternal origin of the gene, in a heritable pattern. The incidence of imprinting disorders has become a growing concern due to the potential association between these congenital syndromes and assisted reproductive technologies (ARTs). This review presents a general summary of the imprinting process as well as the current knowledge surrounding the genetic and epigenetic underpinnings of the most prevalent imprinting disorders: Beckwith-Wiedemann syndrome (BWS), Silver-Russell syndrome (SRS), Prader-Willi syndrome (PWS), and Angelman syndrome (AS). As research continues to elucidate the molecular pathways that characterize genetic imprinting, efforts have been made to establish guidelines that incorporate phenotypic manifestations as well as genetic testing to ensure safe and effective management of symptoms. While these efforts are likely to benefit future clinical management, their efficacy cannot yet be generalized to all patients diagnosed with these syndromes, as many of the genetic abnormalities and the associated phenotypic manifestations have yet to be characterized. Furthermore, future advances in the knowledge of epigenetic processes and genetic loci involved in the development of these syndromes may allow for the development of curative therapies.
Keywords: Epigenetics; angelman syndrome; beckwith-wiedemann syndrome; imprinting; prader-willi syndrome; silver-russell syndrome.