Wopperer et al.19 performed exome sequencing in 16 families with ADTKD with no sequence variant found (including MUC1), of which 9 showed diagnostic variants in the nephrome (4 in COL4A5, 2 in INF2, and 1 each in COL4A4, PAX2, SALL1, and PKD2). Here, PAX2 is linked to autosomal dominant medullary cystic kidney disease with or without hyperuricemia.