Fig. 3.

Disease-causing genes detected in the IKGP participants separated according to a priori diagnosis. CAKUT congenital anomalies of the kidney and urinary tract, AS/FSGS Alport syndrome/focal segmental glomerulosclerosis, GN glomerulonephritis, PKD polycystic kidney disease, uCKD chronic kidney disease of uncertain aetiology, TIKD tubulointerstitial kidney disease. ¹In family F87, the proband had initial presentation of CKD stage 5, proteinuria, and family history of CKD, and referred with a priori diagnosis of GN. Proteinuria is thought to be a result of chronic changes rather than representing nature of the primary disease tubulointerstitial disease following the establishment of genetic diagnosis by MUC1 sequencing and immunostaining for MUC1fs