Simona F Madeo, Luca Zagaroli, Sara Vandelli, Valeria Calcaterra, Antonino Crinò, Luisa De Sanctis, Maria Felicia Faienza, Danilo Fintini, Laura Guazzarotti, Maria Rosaria Licenziati, Enza Mozzillo, Roberta Pajno, Emanuela Scarano, Maria E Street, Malgorzata Wasniewska, Sarah Bocchini, Carmen Bucolo, Raffaele Buganza, Mariangela Chiarito, Domenico Corica, Francesca Di Candia, Roberta Francavilla, Nadia Fratangeli, Nicola Improda, Letteria A Morabito, Chiara Mozzato, Virginia Rossi, Concetta Schiavariello, Giovanni Farello, Lorenzo Iughetti, Vincenzo Salpietro, Alessandro Salvatoni, Mara Giordano, Graziano Grugni, Maurizio Delvecchio
Prader-Willi syndrome (PWS) is a complex genetic disorder caused by three different types of molecular genetic abnormalities. The most common defect is a deletion on the paternal 15q11-q13 chromosome, which is seen in about 60% of individuals. The next most common abnormality is maternal disomy 15, found in around 35% of cases, and a defect in the imprinting center that controls the activity of certain genes on chromosome 15, seen in 1-3% of cases. Individuals with PWS typically experience issues with the hypothalamic-pituitary axis, leading to excessive hunger (hyperphagia), severe obesity, various endocrine disorders, and intellectual disability...
2024: Frontiers in Endocrinology