Prader-Willi Syndrome: Genetic Deletions and Critical Genes

In course

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Description

This lecture covers the history of Prader-Willi syndrome, first described in 1956 by Swiss pediatricians. It explains the genetic basis of the syndrome, focusing on large deletions in chromosome 15 and the critical genes involved. Experimental lesions in the hypothalamus are discussed, highlighting the impact on appetite regulation. The detection of deletions using molecular tests like FISH and PCR is explained, emphasizing the importance of accurate diagnosis. The concept of critical genes, such as SNORD116 for binge eating and UBE3A for Angelman syndrome, is explored. The lecture also addresses the risk factors for recurrence, the role of snoRNA genes, and the significance of meiotic deletions in disease causation.

Instructor

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Official source