Figure 1.

Diagnostic yield of genomic screen in 733 individuals with COU. Differences between COU subgroups for diagnostics SNV and CNV yield were all P > 0.05 by using the 2×3 chi-squared test. (A) The overall in silico diagnostic yield of candidate pathogenic SNV and CNV in the COU cohort is 10.0% (73 of 733 patients). This proportion of genomic contribution to the etiology of COU is in accordance with other congenital kidney and urinary tract phenotypes. (B) Distribution of COU cases carrying candidate pathogenic/likely pathogenic SNVs based on mode of inheritance. SNVs in genes with an AD mode of inheritance were vastly predominant for all COU subtypes. (C) Distribution of GDs, likely pathogenic CNVs, and candidate microdeletions and microduplications covering known genes in COU exome cases. Because pathogenic deletions were much more frequently found than duplications in all COU subtypes, our data implicate that haploinsufficiency or dominant negative effects are the main molecular mechanisms leading to COU. DEL, deletion; DUP, duplication. Figure 1 can be viewed in color online at www.jasn.org.