hrp0092p1-218 | GH and IGFs (1) | ESPE2019

Lessons From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion, Illustrating the Roles of IGF2 and IGF1R in Growth Regulation

Brioude Frederic , Bastaraud Sandra Chantot- , Whalen Sandra , Netchine Irene , Giabicani Eloise

IGF2, a major actor which stimulates feta growth, is located within the imprinted 11p15 region, and 11p paternal duplications are usually associated with Beckwith Wiedemann syndrome, a rare condition usually associated with overgrowth. The IGF type 1 receptor binds both IGF-I and IGF-II to promotes cell proliferation and growth, and the IGF1R gene is located at chromosome 15q. Patients with deletions or mutations of IGF1R usually present with intraut...