Given the early onset of metabolic syndrome, whole-exome sequencing (WES) was conducted on the patient and her parents.<h4>Results</h4>By WES and copy number variation verification, the patient was identified as having a de novo heterozygous deletion of one copy in the 17q12 region (34807034-36285028), encompassing 17 protein-coding genes including HNF1B, AATF, and DDX52 (3A:0). This evidence concerns the gene HNF1B and metabolic syndrome.