Among these 50 patients, 32 (64%) had causative variants detected in a NPHP-renal ciliopathy disease gene, while 2/50 (4%) had a causative variant in PKHD1. As WGS comes to be more routinely applied in sequencing of patients’ DNA, we speculate that more ARPKD-associated CYS1 variants will be identified. Here, CYS1 is linked to autosomal recessive polycystic kidney disease.