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Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.

Obesity (Silver Spring, Md.) - 1 Feb 2026

Faccioli Nathan, Poitou Chrisitne, Georget Mathieu, Bertin Françoise, Azar-Kolakez Ahlam, Carette Claire, Faucher Pauline, Gatta-Cherifi Blandine, Gonneau-Lejeune Julie, Linglart Agnès, Clément Karine, Le Beyec‐Le Bihan Johanne, Dubern Béatrice

Abstract excerpt

OBJECTIVE: Pathogenic variants in five established leptin-melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early-onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. METHODS: Next-generation sequencing (NGS) analysis was performed in 395 patients...

Topics

Humans
Leptin
Female
Male
High-Throughput Nucleotide Sequencing
Child
Adult
Obesity, Morbid
Adolescent
Receptor, Melanocortin, Type 4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, Leptin

Retrospective Studies

Child, Preschool

Pro-Opiomelanocortin

Proprotein Convertase 1

Young Adult

Signal Transduction

Melanocortins

Source

Open in PubMed Open full text

Identifiers

PMID: 41451896
DOI: 10.1002/oby.70107
PMCID: PMC12850549

Genes

LEP
LEPR
MC4R
PCSK1
POMC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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