Which Pediatric Disorders are Linked to Abnormal Epigenetic Modifications?
Several pediatric disorders have been associated with abnormal epigenetic modifications:
Beckwith-Wiedemann Syndrome (BWS): A condition characterized by overgrowth and an increased risk of tumor development, often linked to abnormal DNA methylation. Prader-Willi Syndrome (PWS): Results from the loss of expression of paternal genes on chromosome 15, commonly due to epigenetic changes. Angelman Syndrome: Often caused by maternal gene expression loss on chromosome 15, also linked to epigenetic alterations. Rett Syndrome: A neurodevelopmental disorder primarily affecting females, caused by mutations in the MeCP2 gene, which is involved in chromatin remodeling. Autism Spectrum Disorder (ASD): Emerging evidence suggests various epigenetic changes may contribute to the development of ASD.
