A new homozygous pathogenic LEPR variant causing severe, early onset obesity in a Senegalese child - 13/06/25
, Pascal Barat b, Jérôme Delplanque d, e, Amélie Bonnefond c, d, e , Marine Delagrange bAbstract |
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 demonstrated impaired leptin receptor signaling due to this truncating mutation. This case highlights the importance of considering monogenic causes in early-onset obesity. Identifying specific mutations enables the proposal of targeted therapies and the adaptation of clinical management.
Le texte complet de cet article est disponible en PDF.Highlights |
• | Discovery of a novel pathogenic LEPR variant causing severe early-onset obesity. |
• | Functional assays confirm impaired leptin receptor STAT3 signaling. |
• | Highlights the importance of early genetic diagnosis for targeted therapy. |
Abbreviation : BMI, IOTF, SD
Keywords : Monogenic obesity, Rare disease, Early onset and severe obesity, New LEPR genetic variant, Functional study
Plan
Vol 19 - N° 3
P. 279-282 - mai 2025 Retour au numéro
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