Copy number variations in “classical” obesity candidate genes are not frequently associated with severe early-onset obesity in children

<jats:title>Abstract</jats:title><jats:sec><jats:title>Background:</jats:title><jats:p>Obesity is genetically heterogeneous and highly heritable, although polymorphisms explain the phenotype in only a small proportion of obese children. We investigated the presence of copy number variations (CNVs) in “classical” genes known to be associated with (monogenic) early-onset obesity in children.</jats:p></jats:sec><jats:sec><jats:title>Methods:</jats:title><jats:p>In 194 obese Caucasian children selected for early-onset and severe obesity from our obesity cohort we screened for deletions and/or duplications by multiplex ligation-dependent probe amplification reaction (MLPA). As we found one MLPA probe to interfere with a polymorphism in</jats:p></jats:sec><jats:sec><jats:title>Results:</jats:title><jats:p>In the selected subset of most severely obese children, we did not find CNV with</jats:p></jats:sec><jats:sec><jats:title>Conclusions:</jats:title><jats:p>In our modest sample of severely obese children, we were unable to find CNVs in well-established monogenic obesity genes. Nevertheless, we found an association of rs3734354 in</jats:p></jats:sec>