Functional kidney impairment with or without structural abnormalities, including polycystic kidneys, has been reported in 42% of individuals with TBS1 (Kohlhase 2007), and rare SALL1 variants were detected in 0.5–1.4% of CAKUT patients (Hwang et al. 2014; Heidet et al. 2017; Kosfeld et al. 2018). Here, SALL1 is linked to polycystic kidney disease.