Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity

I Mazen, M El-Gammal, M Abdel-Hamid… - Molecular genetics and …, 2011 - Elsevier
Congenital deficiency of the leptin receptor is a very rare cause of severe early-onset
obesity. To date, only 9 families have been reported in the literature to have mutations in the
leptin receptor gene. The clinical features include severe early onset obesity, severe
hyperphagia, hypogonadotropic hypogonadism, and T cell and neuroendocrine/metabolic
dysfunction. Here we report two cousins with severe early onset obesity and recurrent
respiratory tract infections. Their serum leptin levels were elevated but they were within the …