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

Název česky Nová mutace v MC4 R genu spojená s časným výskytem dětské obezity:kazuistika
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KONEČNÁ Petra ŠŤASTNÁ Jana DOSTALOVÁ KOPEČNÁ Lenka VČELÁK Josef PROCHÁZKOVÁ Dagmar

Rok publikování 2017
Druh Konferenční abstrakty
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
Popis 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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