Publication details

A novel MC4 R gene mutations associated with early onset childhood obesity: a case report

Authors

KONEČNÁ Petra ŠŤASTNÁ Jana DOSTALOVÁ KOPEČNÁ Lenka VČELÁK Josef PROCHÁZKOVÁ Dagmar

Year of publication 2017
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

Citation
Description The melanocortin-4-receptor gene (MC4R) is a key regulator of energy homeostasis, food intake and body weight. MC4 R gene mutations are the most common cause of monogenic obesity.Monogenic obesity is described as rare and severe early-onset obesity with abnormal feeding behavior and endocrine disorders. MC4R-linked obesity is characterized by the variable severity of obesity and almost no notable additional phenotypes. Mutations in the MC4R gene are involved in 2-3% of obese children and adults;the majority of these are heterozygous. Authors describe a case report of a two-year-old boy with early onset severe obesity. A novel mutation -22A/T in 5UTR region was identified in the patient.

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