23Jul 2022
Obesity-Associated GNAS Mutations and the Melanocortin Pathway

Obesity-Associated GNAS Mutations and the Melanocortin Pathway

In an exome-sequencing study involving 2548 children who presented with severe obesity, Mendes de Oliveira et al. (Oct. 21 issue)1 reported 19 different GNAS variants in 22 patients with severe childhood-onset obesity without features of pseudohypoparathyroidism. The majority of these variants (16 of 19) were missense variants that were functionally characterized for their effects on signalling by the Gαs subunit–coupled melanocortin 4 receptor. The authors suggest that children with severe childhood-onset obesity should be screened for GNAS variants in accordance with the diagnostic approach favoured by Mantovani et al.2 to enable early diagnosis and treatment.

  • #family health

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