Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.

doi:10.1016/j.gim.2023.100857

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Article

Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2023

Le Collen Lauriane, Delemer Brigitte, Poitou Christine, Vaxillaire Martine, Toussaint Bénédicte, Dechaume Aurélie, Badreddine Alaa, Boissel Mathilde, Derhourhi Mehdi, Clément Karine, Petit Jean M, Mau-Them Frédéric Tran, Bruel Ange-Line, Thauvin-Robinet Christel, Saveanu Alexandru, Cherifi Blandine Gatta, Le Beyec-Le Bihan Johanne, Froguel Philippe, Bonnefond Amélie

Abstract excerpt

PURPOSE: Recessive deficiency of proopiomelanocortin (POMC) causes childhood-onset severe obesity. Cases can now benefit from the melanocortin 4 receptor agonist setmelanotide. Furthermore, a phase 3 clinical trial is evaluating setmelanotide in heterozygotes for POMC. We performed a large-scale genetic analysis to assess the effect of heterozygous, pathogenic POMC variants on obesity. METHODS: A genetic analysis...

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PMID: 37092539
DOI: 10.1016/j.gim.2023.100857

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