一个中国家庭中导致肥胖的新型复合杂合突变。
Novel compound heterozygous mutations in responsible for obesity in a Chinese family.
作者信息
Li Hui, Liu Guodong, Lu Bei, Zhou Xin
机构信息
Department of Anesthesiology, Zibo Central Hospital, Binzhou Medical University, 255036 Zibo, China.
Department of Gastroenterology, Zibo Central Hospital, Binzhou Medical University, 255036 Zibo, China.
出版信息
Mol Genet Metab Rep. 2024 Jun 29;40:101114. doi: 10.1016/j.ymgmr.2024.101114. eCollection 2024 Sep.
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 underlies early-onset obesity in the patient.
背景
儿童期肥胖对全球公共卫生构成重大挑战，因此有必要确定可治疗的病因，尤其是先天性瘦素缺乏症。血清瘦素水平测量有助于诊断这些罕见的病因，指导有效管理。
方法
一个早发性肥胖的中国家庭通过直接测序进行了LEP基因突变筛查。分别使用qPCR和生物信息学分析了LEP的mRNA表达和蛋白质稳定性模式。
结果
我们报告了一例12.5岁女孩的病例，其父母为非肥胖、非近亲结婚的中国人，该女孩瘦素水平较低。瘦素基因测序显示外显子3存在新的复合杂合突变。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使瘦素蛋白不稳定。
结论
功能丧失突变是该患者早发性肥胖的基础。
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