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A toddler with a novel LEPR mutation

Coşkun Armağan1, Ceren Yılmaz2, Altuğ Koç3

  • 1Department of Pediatrics, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.

Hormones (Athens, Greece)
|February 20, 2019
PubMed

Insights

Genetic factors can cause severe early-onset obesity. A novel mutation in the leptin receptor (LEPR) gene was identified in a young patient with this condition.

Area of Science:

  • Genetics and Endocrinology
  • Molecular Biology

Background:

  • Obesity has diverse causes including environmental, genetic, and endocrine factors.
  • Severe early-onset obesity with specific syndromic features often indicates a genetic basis.
  • The leptin-melanocortin pathway is crucial for regulating food intake and energy balance.

Observation:

  • A 3-year-old male presented with severe early-onset obesity.
  • The patient exhibited abnormal feeding behaviors and other developmental abnormalities.
  • Genetic analysis was performed to investigate the underlying cause.

Findings:

  • A novel, homozygous, pathogenic variant (c.1603+2T>C) was identified in the leptin receptor (LEPR) gene.
  • Mutations in LEPR are known to cause severe obesity by disrupting the leptin signaling pathway.
  • This specific variant provides new insight into LEPR gene function in obesity pathogenesis.

Implications:

  • This finding reinforces the role of the leptin-melanocortin pathway in severe early-onset obesity.
  • Genetic testing for LEPR mutations should be considered in patients with severe obesity and related symptoms.
  • Understanding novel variants like this can lead to improved diagnostics and potential therapeutic targets for genetic obesity.

Keywords:
Early-onset obesityLeptin ReceptorMonogenic obesityMutationSetmelanotide

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