In order to evaluate the potential broader effects of the molecules identified in the context of NPHP1, we next focused on IQCB1/NPHP5 which was previously associated with Senior-Løken syndrome with juvenile NPH.30, 31, 32, 33, 34, 35 URECs were collected from 2 nontwin brothers (2-05P1 and 2-05P2) harboring compound heterozygous variants in NPHP5. 35Sanger sequencing confirmed the presence of the 2 loss-of-function variants in URECs, which result in decreased NPHP5 expression (Supplementary Figure S6). This evidence concerns the gene IQCB1 and Sjogren-Larsson syndrome.