Premium
New candidate loci identified by array‐CGH in a cohort of 100 children presenting with syndromic obesity
Author(s) -
Vuillaume MarieLaure,
Naudion Sophie,
Banneau Guillaume,
Diene Gwenaelle,
Cartault Audrey,
Cailley Dorothée,
Bouron Julie,
Toutain Jérôme,
Bourrouillou Georges,
Vigouroux Adeline,
Bouneau Laurence,
Nacka Fabienne,
Kieffer Isabelle,
Arveiler Benoit,
KnollGellida Anja,
Babin Patrick J.,
Bieth Eric,
Jouret Béatrice,
Julia Sophie,
Sarda Pierre,
Geneviève David,
Faivre Laurence,
Lacombe Didier,
Barat Pascal,
Tauber Maithé,
Delrue MarieAnge,
Rooryck Caroline
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36587
Subject(s) - genetics , candidate gene , obesity , copy number variation , comparative genomic hybridization , biology , etiology , bioinformatics , gene , cohort , medicine , chromosome , genome , endocrinology
Syndromic obesity is defined by the association of obesity with one or more feature(s) including developmental delay, dysmorphic traits, and/or congenital malformations. Over 25 syndromic forms of obesity have been identified. However, most cases remain of unknown etiology. The aim of this study was to identify new candidate loci associated with syndromic obesity to find new candidate genes and to better understand molecular mechanisms involved in this pathology. We performed oligonucleotide microarray‐based comparative genomic hybridization in a cohort of 100 children presenting with syndromic obesity of unknown etiology, after exhaustive clinical, biological, and molecular studies. Chromosomal copy number variations were detected in 42% of the children in our cohort, with 23% of patients with potentially pathogenic copy number variants. Our results support that chromosomal rearrangements are frequently associated with syndromic obesity with a variety of contributory genes having relevance to either obesity or developmental delay. A list of inherited or apparently de novo duplications and deletions including their enclosed genes and not previously linked to syndromic obesity was established. Proteins encoded by several of these genes are involved in lipid metabolism (ACOXL, MSMO1, MVD, and PDZK1) linked with nervous system function (BDH1 and LINGO2), neutral lipid storage (PLIN2), energy homeostasis and metabolic processes (CDH13, CNTNAP2, CPPED1, NDUFA4, PTGS2, and SOCS6). © 2014 Wiley Periodicals, Inc.