Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity

Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity

BackgroundThe melanocortinergic pathway orchestrates the energy homeostasis and impairments in this system often lead to an increase in body weight. Rare variants in the melanocortin 4 receptor (MC4R) gene resulting in partial or complete loss of function have been described with autosomal co-domina...

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Main Authors: Kaio Cezar Rodrigues Salum, Guilherme Orofino de Souza, Gabriella de Medeiros Abreu, Mário Campos Junior, Fabiana Barzotto Kohlrausch, João Regis Ivar Carneiro, José Firmino Nogueira Neto, Fernanda Cristina C. Mattos Magno, Eliane Lopes Rosado, Lohanna Palhinha, Clarissa Menezes Maya-Monteiro, Giselda Maria Kalil de Cabello, Pedro Hernán Cabello, Patrícia Torres Bozza, Verônica Marques Zembrzuski, Ana Carolina Proença da Fonseca
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-12-01
Series:Frontiers in Genetics
Subjects:
severe obesity
MC4R
non-syndromic monogenic obesity
adulthood-onset obesity
mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.608840/full

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https://www.frontiersin.org/articles/10.3389/fgene.2020.608840/full

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