title: [Obesity caused by melanocortin-4 receptor mutations].
abstract: Obesity is usually the result of a combination of genetic and lifestyle factors. In monogenic obesity, overweight is caused by a single gene mutation. The most frequent form of monogenic obesity is caused by mutations in the gene that codes for the melanocortin-4 receptor (MC4R gene). Approximately 2% of Dutch children with obesity have a mutation in the MC4R gene. Children with homozygous and 'compound' heterozygous MC4R mutations have a phenotype distinguished by extreme overweight at an early age and hyperphagia. Children with heterozygous MC4R mutations have a more subtle phenotype and are difficult to distinguish clinically from obese children without this mutation. MC4R mutations can be identified by DNA diagnostics.- Drug treatment is not yet available for this condition.
authors.affiliation: Leids Universitair Medisch Centrum, afd. Kindergeneeskunde, Leiden, the Netherlands.
authors.forename: Linda
authors.initials: L
authors.lastname: van den Berg
authors.forename: Miriam
authors.initials: M
authors.lastname: Glorie-Docter
authors.forename: Erica
authors.initials: E
authors.lastname: van den Akker
authors.forename: Henriette A
authors.initials: HA
authors.lastname: Delemarre-van de Waal
mesh_terms: D002648:Child; D006801:Humans; D009154:Mutation; D009765:Obesity / Q000453:epidemiology / Q000235:genetics*; D015995:Prevalence; D044105:Receptor, Melanocortin, Type 4 / Q000235:genetics*; D012720:Severity of Illness Index
chemical_list: D044105:Receptor, Melanocortin, Type 4