Laura Machado Lara Carvalho, Alexander Augusto de Lima Jorge, Débora Romeo Bertola, Ana Cristina Victorino Krepischi, Carla Rosenberg
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引用次数: 0
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.
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.