Obesity-Associated GNAS Mutations and the Melanocortin Pathway
Publication: New England Journal of Medicine
Edson Mendes de Oliveira, Julia M. Keogh, Fleur Talbot, Elana Henning, Rachel Ahmed, Aliki Perdikari, Rebecca Bounds, Natalia Wasiluk, Vikram Ayinampudi, Inês Barroso, Jacek Mokrosiński, Deepthi Jyothish, Sharon Lim, Sanjay Gupta, Melanie Kershaw, Cristina Matei, Praveen Partha, Tabitha Randell, Antoinette McAulay, Louise C. Wilson, Tim Cheetham, Elizabeth C. Crowne, Peter Clayton, and I. Sadaf Farooqi,
06 October 2021
Summary
Single-gene disorders that involve mendelian inheritance are individually rare, but collectively they account for 1 in 100 births. Although genetic testing has traditionally been informed by clinical characteristics, next-generation sequencing now permits the unbiased testing of multiple genes.
This study involved a subgroup of patients with severe obesity and in whom mutations in known obesity genes had been ruled out. Researchers performed exome sequencing and targeted resequencing.
