Upon re-evaluation of pancreatic islet function after a three-month follow-up, no significant changes were observed. The L992Sfs5* mutation in PKD1 (NM_001009944.3; c.2764del; p. L992Sfs*5) of the proband screened by WES, inherited from her mother, may contribute to the abnormal renal function, and both the proband and her mother had radiographically confirmed polycystic kidney (Supplementary Fig. 1). This evidence concerns the gene PKD1 and polycystic kidney disease.