New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity

Marie-Laure Vuillaume, Sophie Naudion, Guillaume Banneau, Gwenaelle Diene, Audrey Cartault, Dorothée Cailley, Julie Bouron, Jérôme Toutain, Georges Bourrouillou, Adeline Vigouroux, Laurence Bouneau, Fabienne Nacka, Isabelle Kieffer, Benoit Arveiler, Anja Knoll-Gellida, Patrick J. Babin, Eric Bieth, Béatrice Jouret, Sophie Julia, Pierre Sarda, David Geneviève, Laurence Faivre, Didier Lacombe, Pascal Barat, Maithé Tauber, Marie-Ange Delrue, Caroline Rooryck
Am. J. Med. Genet.. 2014-04-29; 164(8): 1965-1975
DOI: 10.1002/ajmg.a.36587

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1. Am J Med Genet A. 2014 Aug;164A(8):1965-75. doi: 10.1002/ajmg.a.36587. Epub 2014
Apr 29.

New candidate loci identified by array-CGH in a cohort of 100 children presenting
with syndromic obesity.

Vuillaume ML(1), Naudion S, Banneau G, Diene G, Cartault A, Cailley D, Bouron J,
Toutain J, Bourrouillou G, Vigouroux A, Bouneau L, Nacka F, Kieffer I, Arveiler
B, Knoll-Gellida A, Babin PJ, Bieth E, Jouret B, Julia S, Sarda P, Geneviève D,
Faivre L, Lacombe D, Barat P, Tauber M, Delrue MA, Rooryck C.

Author information:
(1)CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Univ. Bordeaux,
Maladies Rares : Génétique et Métabolisme (MRGM), EA 4576, Bordeaux, France.

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.

DOI: 10.1002/ajmg.a.36587
PMID: 24782328 [Indexed for MEDLINE]

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