IMPRINTING DISORDERS: A CLOSER LOOK AT PRADER-WILLI, ANGELMAN, AND BECKWITH-WIEDEMANN SYNDROMES
“πΎπππ πππ πππ‘π£πππ₯πππ ππ€ π ππππππππ€π ππͺ π¨ππππ π₯ππ π€πππ ππππ πππ πππ§π ππππππ₯π£ππππππͺ π π‘π‘π π€ππ₯π ππππππ₯π€ πππ‘ππππππ π π π¨πππ₯πππ£ ππ₯ ππ€ πππππ£ππ₯ππ ππ£π π π₯ππ ππ π₯πππ£ π π£ π₯ππ πππ₯πππ£.” - Prof. Azim Surani 𧬠Imprinting disorders arise when genes normally expressed from only one parental allele become dysregulated. This parent-of-origin specific expression is essential for growth, neurodevelopment, and early embryonic programming. When imprinting fails, it results in well-defined syndromes with characteristic features. Among the most studied are Prader-Willi Syndrome (PWS), Angelman Syndrome (AS), and Beckwith-Wiedemann Syndrome (BWS), each distinct yet unified by a shared epigenetic mechanism. πΉ Prader–Willi Syndrome (PWS): Loss of paternal genes on 15q11–q13 (mainly deletions). Features include infant hypotonia, earl...