Ontology highlight
ABSTRACT:
SUBMITTER: Goldlust IS
PROVIDER: S-EPMC3773733 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Goldlust Ian S IS Hermetz Karen E KE Catalano Lisa M LM Barfield Richard T RT Cozad Rebecca R Wynn Grace G Ozdemir Alev Cagla AC Conneely Karen N KN Mulle Jennifer G JG Dharamrup Shikha S Hegde Madhuri R MR Kim Katherine H KH Angle Brad B Colley Alison A Webb Amy E AE Thorland Erik C EC Ellison Jay W JW Rosenfeld Jill A JA Ballif Blake C BC Shaffer Lisa G LG Demmer Laurie A LA Rudd M Katharine MK
Proceedings of the National Academy of Sciences of the United States of America 20130826 37
Obesity is a highly heritable condition and a risk factor for other diseases, including type 2 diabetes, cardiovascular disease, hypertension, and cancer. Recently, genomic copy number variation (CNV) has been implicated in cases of early onset obesity that may be comorbid with intellectual disability. Here, we describe a recurrent CNV that causes a syndrome associated with intellectual disability, seizures, macrocephaly, and obesity. This unbalanced chromosome translocation leads to duplication ...[more]