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26-01-2024 | Obesity | Review

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

Authors: Laura Machado Lara Carvalho, Alexander Augusto de Lima Jorge, Débora Romeo Bertola, Ana Cristina Victorino Krepischi, Carla Rosenberg

Published in: Current Obesity Reports

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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.

Summary

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.
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Metadata
Title
A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis
Authors
Laura Machado Lara Carvalho
Alexander Augusto de Lima Jorge
Débora Romeo Bertola
Ana Cristina Victorino Krepischi
Carla Rosenberg
Publication date
26-01-2024
Publisher
Springer US
Published in
Current Obesity Reports
Electronic ISSN: 2162-4968
DOI
https://doi.org/10.1007/s13679-023-00543-y