A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.

IF 9.5 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Current Obesity Reports Pub Date : 2024-06-01 Epub Date: 2024-01-26 DOI:10.1007/s13679-023-00543-y
Laura Machado Lara Carvalho, Alexander Augusto de Lima Jorge, Débora Romeo Bertola, Ana Cristina Victorino Krepischi, Carla Rosenberg
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Abstract

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.

Abstract Image

肥胖症综合征的全面回顾:遗传病因、临床特征和分子诊断。
综合征肥胖症是指肥胖症伴有其他临床表现,如智力障碍/发育迟缓、畸形特征和先天性畸形。综述目的:综述综合征肥胖症的遗传病因、临床描述和分子诊断,综合征肥胖症是一种表型变异性和遗传异质性较高的罕见疾病。本综述介绍了以下综合征:Prader-Willi、Bardet-Biedl、假性甲状旁腺功能减退症、Alström、Smith-Magenis、Cohen、Temple、1p36 缺失、16p11.2 微缺失、Kleefstra、SIM1 相关、Börjeson-Forssman-Lehmann、WAGRO、Carpenter、MORM 和 MYT1L 相关综合征。最新发现:综合征性肥胖的机制主要有三类:印记、转录活动调控和细胞纤毛功能。就分子诊断而言,全基因组调查方法应优先于综合征肥胖基因的测序。此外,我们还提出了一些需要进一步界定的新型综合症,但有证据表明这些综合症的肥胖发生率较高。综合征肥胖症的病因往往与神经发育(中枢)紊乱有关,并与多种基因和生物通路相关。在对综合征肥胖症患者进行基因调查时,应考虑综合征病因与肥胖症无关的可能性。准确的遗传诊断会影响医疗管理、治疗和预后,并可提供适当的遗传咨询。
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来源期刊
Current Obesity Reports
Current Obesity Reports Medicine-General Medicine
CiteScore
16.40
自引率
1.10%
发文量
25
期刊介绍: The main objective of Current Obesity Reports is to provide expert review articles on recent advancements in the interdisciplinary field of obesity research. Our aim is to offer clear, insightful, and balanced contributions that will benefit all individuals involved in the treatment and prevention of obesity, as well as related conditions such as cardiovascular diseases, endocrine disorders, gynecological issues, cancer, mental health, respiratory complications, and rheumatological diseases. We strive to redefine the way knowledge is expressed and provide organized content for the benefit of our readership.
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