hrp0097t4 | Section | ESPE2023

Functional characterization of novel MC4R gene variant in two unrelated patients with morbid obesity

Mohammed Idris , Selvaraj Senthil , Ahmed Wesam , Albarazenji Tara , Al-Shafai Mashae , Hussain Khalid

Background: The leptin-melanocortin pathway is pivotal in appetite and energy homeostasis. Pathogenic variants in genes involved in this pathway lead to severe early-onset monogenic obesity (MO). The MC4R gene plays a central role in the leptin-melanocortin, and variants predominantly heterozygous in this gene, are the most common cause of MO. We identified a novel heterozygous variant c.802T>C p.Tyr268His in the MC4R gene in two unrelated patients with mor...