综合征性肥胖是指伴随其他临床发现而发生的肥胖,如智力障碍/发育迟缓,变形特征,先天性畸形.综述的目的:提出关于遗传病因的叙述性综述,临床描述,和综合征性肥胖的分子诊断,这是一种罕见的条件,具有高度的表型变异性和遗传异质性。本文介绍了以下综合征:Prader-Willi,Bardet-Biedl,假性甲状旁腺功能减退症,Alström,Smith-Magenis,科恩,坦普尔,1p36删除,16p11.2微删除,Kleefstra,SIM1相关,Börjeson-Forssman-Lehmann,WAGRO,木匠,MORM,和MYT1L相关综合征。最近的发现:有三大类的机制综合征性肥胖:印记,转录活性调控,和细胞纤毛功能。对于分子诊断,全基因组研究的方法应优先于综合征性肥胖基因组的测序.此外,我们提出了新的症状,需要进一步描述,但是有证据表明他们肥胖的频率更高。综合征性肥胖的病因学倾向于与神经发育(中枢)的破坏有关,并且与基因和生物学途径的多样性有关。在对综合征性肥胖个体的遗传调查中,应考虑综合征的病因与肥胖无关的可能性。准确的基因诊断影响医疗管理,治疗,和预后,并允许适当的遗传咨询。
Syndromic obesity refers to obesity occurring with additional clinical findings, such as intellectual disability/developmental delay, dysmorphic features, and congenital malformations. PURPOSE OF
REVIEW: To present a narrative
review regarding the genetic etiology, clinical description, and molecular diagnosis of syndromic obesity, which is a rare condition with high phenotypic variability and genetic heterogeneity. The following syndromes are presented in this
review: Prader-Willi, Bardet-Biedl, Pseudohypoparathyroidism, Alström, Smith-Magenis, Cohen, Temple, 1p36 deletion, 16p11.2 microdeletion, Kleefstra, SIM1-related, Börjeson-Forssman-Lehmann, WAGRO, Carpenter, MORM, and MYT1L-related syndromes. RECENT FINDINGS: There are three main groups of mechanisms for syndromic obesity: imprinting, transcriptional activity regulation, and cellular cilia function. For molecular diagnostic, methods of genome-wide investigation should be prioritized over sequencing of panels of syndromic obesity genes. In addition, we present novel syndromic conditions that need further delineation, but evidences suggest they have a higher frequency of obesity. The etiology of syndromic obesity tends to be linked to disrupted neurodevelopment (central) and is associated with a diversity of genes and biological pathways. In the genetic investigation of individuals with syndromic obesity, the possibility that the etiology of the syndromic condition is independent of obesity should be considered. The accurate genetic diagnosis impacts medical management, treatment, and prognosis, and allows proper genetic counseling.