Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults.

doi:10.1210/jc.2003-031182

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Article

Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults.

The Journal of clinical endocrinology and metabolism - 1 Feb 2004

Valli-Jaakola Kaisa, Lipsanen-Nyman Marita, Oksanen Laura, Hollenberg Anthony N, Kontula Kimmo, Bjørbaek Christian, Schalin-Jäntti Camilla

Abstract excerpt

Two Finnish cohorts, comprising 56 children with severe early-onset obesity (relative weight for height greater than or equal to +70% before age 10) and 252 morbidly obese adults (body mass index, > or = 40 kg/m(2)), were screened for melanocortin-4 receptor (MC4R) mutations. We identified a pathogenic mutation (S127L) in one child, causing severe early-onset obesity. We describe the phenotype of this particular...

Topics

Adolescent
Adult
Cell Line
Child
Cohort Studies
Female
Finland
Heterozygote
Humans
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Obesity, Morbid

Pedigree

Phenotype

Polymorphism, Genetic

Receptor, Melanocortin, Type 4

Signal Transduction

Source

Open in PubMed

Identifiers

PMID: 14764818
DOI: 10.1210/jc.2003-031182

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