hrp0098p1-148 | Fat, Metabolism and Obesity 3 | ESPE2024

A novel homozygous frameshift mutation in ADCY3 in a consanguineous family with severe early-onset obesity.

Mohammed Idris , Selvaraj Senthil , S Ahmed Wesam , Al-Barazenji Tara , Hussain Khalid

Background: Monogenic early onset obesity is mainly due to pathogenic mutations in a single gene involved in the leptin melanocortin signaling pathway. This pathway is essential for satiety and energy homeostasis. Adenylate cyclase 3 (ADCY3) is a transmembrane protein localized in the primary cilia of neurons and plays a vital role in converting ATP to cAMP, a secondary messenger that regulates various downstream signaling pathways that control carbohydrates a...