A Novel Mutation in Leptin Gene Is Associated with Severe Obesity in Chinese Individuals

Yue Zhao
Nanchao Hong
Xiao Liu
Beibei Wu
Shanshan Tang
Jianjun Yang
Cheng Hu
Weiping Jia

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Publication date

January 2014

DOI

10.1155/2014/912052

Publisher

Hindawi Limited

Journal

2314-6141

Abstract

Obesity is a clinical syndrome which is driven by interactions between multiple genetic and environmental factors. Monogenic obesity is a rare type of obesity which is caused by a mutation in a single gene. Patients with monogenic obesity may develop early onset of obesity and severe metabolic abnormalities. In this study, we screened mutations of LEP in a total of 135 Chinese individuals including 35 obese patients whose BMI ≥32 kg/m2 and 100 controls with BMI <25 kg/m2. Moreover, detailed information and clinical measurements of the participants were also collected. Finally, we identified a novel nonsynonymous mutation H118L in exon 3 of LEP in one patient with BMI 46.0 kg/m2. This mutation was n...