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Article

A new homozygous pathogenic LEPR variant causing severe, early onset obesity in a Senegalese child.

Obesity research & clinical practice - 1 Jan 2025

Deswarte Virginie, Lebreton Louis, Barat Pascal, Delplanque Jérôme, Bonnefond Amélie, Delagrange Marine

Abstract excerpt

We report the case of a three-year-old Senegalese child presenting with severe obesity and hyperphagia since birth. Despite normal birth parameters and non-consanguineous parents with average BMI, the child exhibited rapid weight gain, surpassing obesity thresholds before the age of one. Genetic analysis revealed a novel homozygous variant in the LEPR gene (c.3190 G>T; p.(Glu1064Ter)). Functional assays...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40335422
DOI: 10.1016/j.orcp.2025.04.007

Genes

LEPR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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