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Leptin deficiency and leptin gene mutations in obese children from Pakistan
Warda Fatima1, Adeela Shahid, Muhammad Imran
1Department of Human Genetics and Molecular Biology, University of Health Sciences, Lahore, Pakistan.
Insights
Congenital leptin deficiency, a rare genetic disorder causing obesity, was found in 9 out of 25 obese Pakistani children. Researchers identified novel and known leptin gene mutations in these patients.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- Congenital leptin deficiency is a rare genetic disorder.
- Characterized by hyperphagia and rapid weight gain in infancy.
- Only 14 cases and 4 mutations reported globally.
Purpose of the Study:
- Measure serum leptin levels in obese children.
- Identify leptin gene mutations in deficient individuals.
Main Methods:
- Recruited 25 obese children.
- Measured serum leptin levels.
- Performed leptin gene sequencing.
Main Results:
- Leptin deficiency identified in 9 children (36%).
- Homozygous mutations found in all deficient children.
- Two novel mutations (c.481_482delCT, c.104_106delTCA) and one previously reported mutation (c.398delG) identified.
Conclusions:
- Leptin deficiency may be common in obese Pakistani children.
- Further research needed to confirm prevalence.
- Highlights the role of leptin in childhood obesity.
Background:
Congenital leptin deficiency is a rare human genetic condition clinically characterized by hyperphagia and acute weight gain usually during the first postnatal year. The worldwide data on this disorder includes only 14 cases and four pathogenic mutations have been reported in the leptin gene.
Study Objective:
The objectives of this study were to measure serum leptin levels in obese children and to detect leptin gene mutations in those found to be leptin deficient.
Patients And Results:
A total of 25 obese children were recruited for the study. Leptin deficiency was detected in nine of them. Leptin gene sequencing identified mutations in homozygous state in all the leptin deficient children. Two cases carried novel mutations (c.481_482delCT and c.104_106delTCA) and each of the remaining seven the previously reported frameshift mutation (c.398delG).
Conclusion:
The results suggest that leptin deficiency caused by mutations in the leptin gene may frequently be seen in obese Pakistani children from Central Punjab.
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