SIM1基因变异致早发性肥胖1例及文献复习  

SIM1 gene mutation-associated early onset obesity:a case report and literature review

作　　者：王峤[1] 覃菲 巩纯秀[1] Wang Qiao;Qin Fei;Gong Chunxiu(Department of Endocrinology,Genetics and Metabolism,Beijing Children′s Hospital,Capital Medical University,Beijing 100045,China;Faculty of Pediatrics,Capital Medical University,Beijing 100069,China)

机构地区：[1]首都医科大学附属北京儿童医院内分泌遗传代谢科,北京100045 [2]首都医科大学儿科医学院,北京100069

出　　处：《中华实用儿科临床杂志》2024年第4期303-306,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：北京市研究型病房建设示范单位项目(BCRW202101)。

摘　　要：对2022年2月就诊于首都医科大学附属北京儿童医院的1例SIM1基因变异致肥胖的患儿临床资料进行回顾性分析。患儿,女,5岁4个月,临床主要表现为早发性肥胖,29月龄时已达同龄女童肥胖标准,伴重度阻塞性睡眠呼吸暂停综合征。患儿及其母亲存在SIM1基因杂合变异。文献复习全球范围不同家系的SIM1基因变异导致肥胖患者共42例,本病以早发性肥胖为主要特征,近1/3还伴有肥胖外临床表现,包括智力运动发育迟缓、认知行为问题、轻度外观畸形以及神经内分泌异常。目前共报道了58种SIM1基因变异与肥胖相关,大多集中于C-末端结构域。p.T46R及p.D707H等位基因频率达9.5%,考虑为热点变异。提示对于早发性肥胖患者,应注意完善SIM1基因分析。Clinical data of a child with SIM1 gene mutation-related obesity who visited Beijing Children′s Hospital,Capital Medical University in February 2022 was retrospectively analyzed.This 5-year-and-4-month-old girl was admitted for early onset obesity.She showed obesity at 29 months old,accompanied by severe obstructive sleep apnea syndrome.The patient and her mother had heterozygous variations in the SIM1 gene.Literature has reported a total of 42 patients with obesity caused by SIM1 gene mutations from different families in the world,and nearly 1/3 of patients had clinical manifestations beyond obesity,such as developmental delay,cognitive and behavioral problems,mild dysmorphic appearance,and neuroendocrine abnormalities.The patient in this study was mainly characterized by early onset obesity.At present,58 SIM1 gene mutations are found to be related to obesity,which are mostly concentrated in the C-terminal domain.The allele frequency of p.T46R and p.D707H has reached 9.5%;therefore,p.T46R and p.D707H are considered hot spot variations,suggesting that SIM1 gene analysis should be improved for patients with early onset obesity.

关 键 词：儿童 SIM1基因 单基因肥胖 早发性肥胖 阻塞性睡眠呼吸暂停综合征 

分 类 号：R723.14[医药卫生—儿科]