HNF1B and maturity-onset diabetes of the young: This study performed genetic sequencing on a patient suspected of maturity-onset diabetes of the young (MODY), followed by a Minigene assay on the identified variant of uncertain significance.<h4>Results</h4>Trio-whole-genome sequencing (Trio-WGS) identified the <i>de novo HNF1B</i> splice-site variant (NM_000458.4: c.544+3_544+6delAAGT).