一种新的纯合子致病性LEPR变异导致塞内加尔儿童严重的早发性肥胖。

IF 2.5 4区医学 Q3 ENDOCRINOLOGY & METABOLISM

Obesity research & clinical practice Pub Date : 2025-05-01 DOI:10.1016/j.orcp.2025.04.007

Virginie Deswarte , Louis Lebreton , Pascal Barat , Jérôme Delplanque , Amélie Bonnefond , Marine Delagrange

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引用次数: 0

摘要

我们报告的情况下，三岁的塞内加尔儿童表现出严重的肥胖和贪食，因为出生。尽管出生参数正常，非近亲父母体重指数平均，但孩子的体重迅速增加，在一岁前超过了肥胖阈值。遗传分析显示LEPR基因(c.3190 G>T；(Glu1064Ter)页)。功能分析表明，由于这种截断突变，瘦素受体信号传导受损。这个病例强调了在早发性肥胖中考虑单基因原因的重要性。识别特定的突变可以提出靶向治疗和适应临床管理。

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A new homozygous pathogenic LEPR variant causing severe, early onset obesity in a Senegalese child

We report the case of a three-year-old Senegalese child presenting with severe obesity and hyperphagia since birth. Despite normal birth parameters and non-consanguineous parents with average BMI, the child exhibited rapid weight gain, surpassing obesity thresholds before the age of one. Genetic analysis revealed a novel homozygous variant in the LEPR gene (c.3190 G>T; p.(Glu1064Ter)). Functional assays demonstrated impaired leptin receptor signaling due to this truncating mutation. This case highlights the importance of considering monogenic causes in early-onset obesity. Identifying specific mutations enables the proposal of targeted therapies and the adaptation of clinical management.

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来源期刊

Obesity research & clinical practice 医学-内分泌学与代谢

CiteScore

7.10

自引率

0.00%

发文量

审稿时长

49 days

期刊介绍： The aim of Obesity Research & Clinical Practice (ORCP) is to publish high quality clinical and basic research relating to the epidemiology, mechanism, complications and treatment of obesity and the complication of obesity. Studies relating to the Asia Oceania region are particularly welcome, given the increasing burden of obesity in Asia Pacific, compounded by specific regional population-based and genetic issues, and the devastating personal and economic consequences. The journal aims to expose health care practitioners, clinical researchers, basic scientists, epidemiologists, and public health officials in the region to all areas of obesity research and practice. In addition to original research the ORCP publishes reviews, patient reports, short communications, and letters to the editor (including comments on published papers). The proceedings and abstracts of the Annual Meeting of the Asia Oceania Association for the Study of Obesity is published as a supplement each year.