Article
Functional alterations of two novel MC4R mutations found in Argentinian pediatric patients with early onset obesity.
Molecular and cellular endocrinology - 1 Jan 2023
Fernández Estefanía, McCarthy Clara Inés, Cerviño Ramiro Hector, Rodríguez Silvia Susana, Yaneff Agustín, Hernández Julieta, Garrido Verónica, Di Rocco Florencia, Raingo Jesica
Abstract excerpt
Loss-of-function mutations in melanocortin-4 receptor (MC4R) are the most common cause of monogenic obesity, a severe type of early-onset obesity. Our aim was to determine the prevalence of MC4R mutations in a cohort of 97 Argentinian children with early-onset obesity. We found two novel mutations (p.V52E and p.G233S) and estimated a prevalence of 2.1%. We investigated the pathogenicity of mutations in HEK293T...
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