... was predicted pathogenic by multiple in silico tools and affects a highly conserved residue. Conclusion: Early-onset obesity may be monogenic. Our finding expands the spectrum of disease-causing variants in PHIP and demonstrates variable intrafamilial clinical expressivity and severity. Screening for PHIP...

... in the Melanocortin 4 receptor ( MC4R ), which are found in 5.7–8.6% of individuals with early-onset obesity. We report, the effect of semaglutide, a long-acting glucagon-like peptide (GLP-1) analogue, in the treatment of severe obesity in an adolescent boy with a heterozygous mutation in MC4R . Case Presentation...

.... Melanocortin-4 receptor G protein-coupled receptor Obesity Early-onset obesity Signal transduction Metabolic syndrome Children Mutations in the melanocortin-4 receptor (MC4R) gene are considered the most common monogenic cause of obesity [ 1,2 ]. The MC4R gene encodes a G protein-coupled...

..., but have so far not been reported. Transcription factor nescient helix-loop-helix 2 (Nhlh2) is a novel obesity candidate gene. We searched for mutations in MC4R promoter and Nhlh2 gene in 152 children with severe early-onset obesity. Lean subjects (n = 447) served as controls. Methods: MC4R promoter...