To screen for variants in the MC4R and LEP genes in 46 patients with clinical suspicion of non-syndromic early onset severeĀ obesity (NEOSO). Children with early onset obesity satisfying WHO criteria o Show more
To screen for variants in the MC4R and LEP genes in 46 patients with clinical suspicion of non-syndromic early onset severeĀ obesity (NEOSO). Children with early onset obesity satisfying WHO criteria of obesity were studied. TheĀ MC4R and LEP genes were sequenced using a PCR amplicon based NGS on Illumina MiSeq next generation sequencer using an in-house developed protocol. Of the 46 children tested, four were found to have novel pathogenic/likely-pathogenic variants (one in theĀ MC4R geneĀ and three in theĀ LEP gene). In three out of the 4 families, theĀ presence of theĀ variants was confirmed using standard bidirectional capillary sequencing in theĀ probands. Four children with novel likely pathogenic variants in theĀ MC4R and LEP genes are reported. Genetic analysis is crucial in children with early onset obesity and should be considered. Show less