Targeted NGS panel testing revealed no pathogenic sequence variants in either the autosomal dominant polycystic kidney disease (ADPKD) genes PKD1 and PKD2, the ARPKD-related gene PKHD1, or in the nephronophthisis genes NPHP11, NPHP13, and NPHPL1, all found by SNP-array analysis to be positioned in regions of homozygosity (ROH) in the affected girl (V:3). Here, XPNPEP3 is linked to autosomal recessive polycystic kidney disease.