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Article

Monoallelic pathogenic variants in LEPR do not cause obesity.

American journal of human genetics - 5 Dec 2024

Delplanque Jérôme, Le Collen Lauriane, Loiselle Hélène, Leloire Audrey, Toussaint Bénédicte, Vaillant Emmanuel, Charpentier Guillaume, Franc Sylvia, Balkau Beverley, Marre Michel, Henriques Emma, Buse Falay Emmanuel, Derhourhi Mehdi, Froguel Philippe, Bonnefond Amélie

Abstract excerpt

Individuals with obesity caused by biallelic pathogenic LEPR (leptin receptor) variants can benefit from setmelanotide, the novel MC4R agonist. An ongoing phase 3 clinical trial (NCT05093634) includes individuals with obesity who carry a heterozygous LEPR variant, although the obesogenic impact of these variants remains incompletely evaluated. The aim of this study was to functionally assess heterozygous variants...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39561769
DOI: 10.1016/j.ajhg.2024.10.014
PMCID: PMC11639077

Genes

LEPR
MC4R

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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