hrp0094p2-352 | Pituitary, neuroendocrinology and puberty | ESPE2021

Patients with PWS and related syndromes display differentially methylated regions involved in neurodevelopmental and nutritional trajectory.

Salles Juliette , Franchitto Nicolas , Bieth Eric , Eddiry Sanaa , Molinas Catherine , Salles Jean Pierre , Tauber Maithe ,

Background: Prader-Willi syndrome is a rare genetic neurodevelopmental disorder caused by a paternal deficiency of maternally imprinted gene expression located in the chromosome 15q11-q13 region. Previous studies have demonstrated that several classes of neurodevelopmental disorders can be attributed to either over- or under-expression of specific genes that may lead to impairments in neuronal generation, differentiation, maturation and growth. Epigenetic chan...