Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/107047
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Type: | Journal article |
Title: | Whole exome sequencing of extreme morbid obesity patients: translational implications for obesity and related disorders |
Author: | Paz-Filho, G. Boguszewski, M. Mastronardi, C. Patel, H. Johar, A. Chuah, A. Huttley, G. Boguszewski, C. Wong, M. Arcos-Burgos, M. Licinio, J. |
Citation: | Genes, 2014; 5(3):709-725 |
Publisher: | Multidisciplinary Digital Publishing Institute |
Issue Date: | 2014 |
ISSN: | 2073-4425 2073-4425 |
Statement of Responsibility: | Gilberto Paz-Filho, Margaret C.S. Boguszewski, Claudio A. Mastronardi, Hardip R. Patel, Angad S. Johar, Aaron Chuah, Gavin A. Huttley, Cesar L. Boguszewski, Ma-Li Wong, Mauricio Arcos-Burgos and Julio Licinio |
Abstract: | Whole-exome sequencing (WES) is a new tool that allows the rapid, inexpensive and accurate exploration of Mendelian and complex diseases, such as obesity. To identify sequence variants associated with obesity, we performed WES of family trios of one male teenager and one female child with severe early-onset obesity. Additionally, the teenager patient had hypopituitarism and hyperprolactinaemia. A comprehensive bioinformatics analysis found de novo and compound heterozygote sequence variants with a damaging effect on genes previously associated with obesity in mice (LRP2) and humans (UCP2), among other intriguing mutations affecting ciliary function (DNAAF1). A gene ontology and pathway analysis of genes harbouring mutations resulted in the significant identification of overrepresented pathways related to ATP/ITP (adenosine/inosine triphosphate) metabolism and, in general, to the regulation of lipid metabolism. We discuss the clinical and physiological consequences of these mutations and the importance of these findings for either the clinical assessment or eventual treatment of morbid obesity. |
Rights: | © 2014 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/). |
DOI: | 10.3390/genes5030709 |
Published version: | http://dx.doi.org/10.3390/genes5030709 |
Appears in Collections: | Aurora harvest 3 Genetics publications |
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hdl_107047.pdf | Published version | 625.53 kB | Adobe PDF | View/Open |
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