# Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family

## TL;DR

A Chinese girl with early-onset obesity and low leptin levels was found to have new mutations in the LEP gene, which likely caused her condition.

## Contribution

The study identifies novel compound heterozygous mutations in the LEP gene associated with early-onset obesity in a non-consanguineous Chinese family.

## Key findings

- The patient had novel compound heterozygous mutations in exon 3 of the LEP gene.
- The mutations did not affect leptin production but caused protein instability.
- These mutations are likely responsible for the patient's early-onset obesity.

## Abstract

Early childhood obesity poses a significant global public health challenge, necessitating the identification of treatable causes, particularly congenital leptin deficiencies. Serum leptin level measurement aids in diagnosing these rare contributors, guiding effective management.

A Chinese family with early-onset obesity underwent LEP mutational screening via direct sequencing. mRNA expression and protein stability patterns of LEP were separately analyzed using qPCR and bioinformatics.

We present a case of a 12.5-year-old girl born to non-obese, non-consanguineous Chinese parents, exhibiting low leptin levels. Leptin gene sequencing revealed novel compound heterozygous mutations in exon 3. RT-PCR analysis showed the mutation didn't affect leptin production. Bioinformatics analysis indicated the variant rendered the leptin protein unstable.

Loss-of-function mutations in LEP underlies early-onset obesity in the patient.