Variant confirmations and familial segregations were analyzed by Sanger sequencing.<h4>Results</h4>WES revealed a shared <i>ATXN3</i> gene variant and two known variants of the <i>SH2B1</i> and <i>ADIPOQ</i> genes, which were reported to be associated with obesity. This evidence concerns the gene SH2B1 and obesity due to melanocortin 4 receptor deficiency.