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

Virginie Deswarte1, Louis Lebreton1, Pascal Barat2

  • 1Department of Biochemistry, Bordeaux University Hospital, Bordeaux, France.

Obesity Research & Clinical Practice
|May 7, 2025
PubMed

Insights

A novel genetic mutation in the leptin receptor (LEPR) gene caused severe early-onset obesity and hyperphagia in a young child. This finding underscores the importance of genetic testing for monogenic obesity and personalized treatment strategies.

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Early-onset obesity is a significant health concern with complex etiologies.
  • Monogenic forms of obesity, though rare, play a crucial role in severe early-onset cases.
  • Genetic factors influencing appetite regulation are critical in pediatric weight management.

Keywords:
Early onset and severe obesityFunctional studyMonogenic obesityNew LEPR genetic variantRare disease

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