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Updated: Jun 20, 2025
Assessment of Child Anthropometry in a Large Epidemiologic Study
Published on: February 2, 2017
Clinical and molecular characterisation of children with monogenic obesity: a case series
Arun George1, Santhosh Navi2, Pamali Nanda1
1Endocrinology and Diabetes Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Insights
This study identified genetic mutations in North Indian children with severe early-onset obesity, highlighting the importance of whole exome sequencing for diagnosing monogenic obesity.
Area of Science:
- Pediatric Endocrinology
- Human Genetics
- Metabolic Disorders
Background:
- Severe early-onset obesity in children presents significant health challenges.
- Monogenic obesity, a rare form, results from single-gene defects.
- Understanding genetic causes is crucial for effective management.
Purpose of the Study:
- To investigate the clinical features and molecular basis of severe early-onset non-syndromic monogenic obesity in North Indian children.
- To identify specific gene variants associated with this condition.
Main Methods:
- Retrospective analysis of clinical and molecular data from 7 children diagnosed with early-onset monogenic obesity.
- Whole exome sequencing was employed for molecular diagnosis.
Main Results:
- The study included 7 children (5 boys) with a median age of 18 months at presentation.
- Common features included hyperphagia, insulin resistance, dyslipidemia, and fatty liver.
- Genetic variants were identified in 6 patients, including novel mutations in leptin receptor, MC4R, POMC, LEPTIN, and NTRK2 genes.
Conclusions:
- This case series offers insights into the genetic landscape of monogenic obesity in North Indian pediatric population.
- Next-generation sequencing is vital for diagnosing severe early-onset obesity and identifying causative genetic mutations.
Introduction:
To study the clinical profile and molecular diagnosis of children with severe early-onset non-syndromic monogenic obesity.
Methods:
The clinical and molecular data (performed using whole exome sequencing) of 7 children with early-onset (< 5 years) non-syndromic monogenic obesity were extracted from the Obesity Clinic files and analysed retrospectively.
Results:
The median (IQR) age at presentation was 18 (10.5-27) months. Of the 7 patients, 5 were boys, 3 had a history of parental consanguinity, and 4 had a family history of severe early-onset obesity. All patients exhibited hyperphagia and showed signs of insulin resistance. Dyslipidaemia and fatty liver were observed in 4. The variants identified in 6 patients included 2 in leptin receptor, and one each in melanocortin 4 receptor, pro-opiomelanocortin, leptin, and neurotrophic tyrosine kinase receptor type 2 genes. Notably, 4 of these variants were novel.
Conclusions:
This case series provides valuable insights into the spectrum of genetic mutations associated with non-syndromic monogenic obesity in North Indian children. The findings underscore the significance of next-generation sequencing in identifying the aetiology of severe early-onset obesity.
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