eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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vol. 29
Case report

Novel homozygous leptin receptor mutation in an infant with monogenic obesity

Hiya Boro
Vikash Bundela
Velmurugan Mannar
Lakshmi Nagendra
Vinita Jain
Bimal Jain
Senthil Kumar
Sourabh Agstam

  1. Endocrinology and Metabolism, Aadhar Health Institute, India
  2. Gastroenterology, Aadhar Health Institute, India
  3. Endocrinology, Aarupadai Veedu Medical College, India
  4. Endocrinology, JSS Medical College, India
  5. Pediatrics, Aadhar Health Institute, India
  6. Scientific Affairs Team, MedGenome Laboratory, IndiaScientific Affairs Team, MedGenome Laboratory, India
  7. Scientific Affairs Team, MedGenome Laboratory, India
  8. Cardiology, Vardhman Mahavir Medical College and Safdarjung Hospital, India
Pediatr Endocrinol Diabetes Metab 2023; 29 (2): 118-123
Online publish date: 2023/07/15
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Monogenic obesity can be caused by a mutation in one of the single genes involved in hunger and satiety. The most common mutations affect melanocortin 4 (MC4) followed by the leptin gene and its receptor. Leptin receptor (LEPR) gene mutation is an extremely rare endocrine disease characterized by early-onset obesity, hyperphagia in addition to pituitary hormone deficiency, and metabolic abnormalities. We report the case of a 12-month-old male infant born of a non-consanguineous marriage. He presented to us with rapid weight gain from 2 months of age along with hyperphagia. Biochemistry revealed a deranged lipid profile, elevated transaminases, and markedly raised serum leptin levels. On genetic analysis, a novel mutation was detected, which was a homozygous variation In exon 12 of the LEPR gene (chr1:g.65608901G>A) that resulted in the synonymous amino acid change of lysine at codon 584 proximal to donor splice site (p.Lys584). The in silico prediction of the variant was ‘damaging’ by MutationTaster2. The mutation was classified as a ‘variant of uncertain significance’ due to a lack of published literature and had to be correlated carefully with the clinical symptoms. It was recommended to do Sanger sequencing of the parents and other family members. However, due to financial constraints, the family could not afford the same. At the time of writing, funds were being arranged for procuring setmelanotide, which is a novel and effective therapy for monogenic obesity due to LepR mutation.

splice site mutation, leptin, leptin receptor, setmelanotide, monogenic obesity

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