Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants

Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants

Author D'Angelo, Carla Sustek Google Scholar
Kohl, Ilana Google Scholar
Varela, Monica Castro Google Scholar
Emilio de Castro, Claudia Irene Google Scholar
Kim, Chong Ae Google Scholar
Bertola, Debora Romeo Google Scholar
Lourenco, Charles Marques Google Scholar
Alvarez Perez, Ana Beatriz Autor UNIFESP Google Scholar
Koiffmann, Celia Priszkulnik Google Scholar
Institution Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Abstract Obesity is a major threat to public health worldwide, and there is now mounting evidence favoring a role for the central nervous system (CNS) in weight control. A causal relationship has been recognized in both monogenic (e.g., BDNF, TRKB, and SIM1 deficiencies) and syndromic forms of obesity [e.g., PraderWilli syndrome (PWS)]. Syndromic obesity arising from chromosomal abnormalities, that typically also affect learning and development, are often associated with congenital malformations and behavioral characteristics. We report on nine unrelated patients with a diagnosis of learning disability and/or developmental delay (DD) in addition to obesity that were found to have copy number variants (CNVs) by single nucleotide polymorphism array-based analysis. Each patient also had a distinct and complex phenotype, and most had hypotonia and other neuroendocrine issues, such as hyperphagia and hypogonadism. Molecular and clinical characterization of these patients enabled us to determine with confidence that the CNVs we observed were pathogenic or likely to be pathogenic. Overall, the CNVs reported here encompassed a candidate gene or region (e.g., SIM1) that has been reported in patients associating obesity and DD and/or intellectual disability (ID) and novel candidate genes and regions. (c) 2013 Wiley Periodicals, Inc.
Keywords obesity
developmental disabilities
DNA copy number variants
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Grant number FAPESP: 09/52523-1
FAPESP: 1998/14254-2
CNPq: 304381/2007-1
Date 2013-03-01
Published in American Journal of Medical Genetics Part A. Hoboken: Wiley-Blackwell, v. 161A, n. 3, p. 479-486, 2013.
ISSN 1552-4825 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 479-486
Origin http://dx.doi.org/10.1002/ajmg.a.35761
Access rights Closed access
Type Article
Web of Science ID WOS:000315341700011
URI http://repositorio.unifesp.br/handle/11600/36020

Show full item record




File

File Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Search


Browse

Statistics

My Account