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

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2024-06-29 DOI:10.1016/j.ymgmr.2024.101114

Hui Li , Guodong Liu , Bei Lu , Xin Zhou

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引用次数: 0

Abstract

Background

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.

Methods

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.

Results

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.

Conclusion

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

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一个中国家庭中导致肥胖的 LEP 基因新型复合杂合突变

背景儿童早期肥胖是全球公共卫生面临的一项重大挑战，需要找出可治疗的原因，尤其是先天性瘦素缺乏症。血清瘦素水平的测定有助于诊断这些罕见的致病因素，从而指导有效的治疗。结果我们发现了一例12.5岁的女孩，她的父母均为非肥胖、非近亲结婚的中国人，但她的瘦素水平却很低。瘦素基因测序发现第 3 外显子存在新型复合杂合突变。RT-PCR分析表明，该突变不影响瘦素的产生。生物信息学分析表明，该变异导致瘦素蛋白不稳定。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.