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. 2018 Aug 24;29(9):2348–2361. doi: 10.1681/ASN.2017121265

Figure 1.

Figure 1.

Number and percentage of 232 congenital anomalies of the kidney and urinary tract (CAKUT) families in which a causative mutation in a known monogenic CAKUT gene (14%) or a candidate gene(s) (16%) was detected by whole-exome sequencing. Blue color denotes that a mutation in a single causative gene was detected in a known isolated or syndromic CAKUT gene (dark blue), and purple color denotes that a mutation in a causative gene was known to phenocopy CAKUT (purple). Light blue denotes candidate mutations in a known syndromic CAKUT gene in families with isolated CAKUT (light blue). Pink was chosen if a candidate variant in a murine CAKUT gene was identified. Red was chosen if one potential novel CAKUT gene was detected in a family, or green was chosen if multiple novel candidate genes for CAKUT were detected in a family. (A) In 29 of 232 (13%) families with CAKUT (dark blue), a causative mutation was detected in one of 40 isolated CAKUT genes (Supplemental Table 1) or one of 179 known syndromic CAKUT genes (Supplemental Table 2). The individuals with mutations in a syndromic CAKUT gene exhibited the corresponding syndromic CAKUT phenotype. (B) In three of 232 (1%) families, a mutation was identified in a gene causing a kidney disease that may represent a phenocopy of CAKUT (purple; i.e., small kidneys of non-CAKUT origin). (C) In 15 of 232 (6%) families with predominantly isolated CAKUT, candidate mutations were detected in one of 179 syndromic CAKUT genes (light blue), indicating a “hypomorphic” effect of these mutations. (D) In five of 232 (2%) families, mutations in a known gene for murine CAKUT were identified (pink). (E) In 19 of 232 (8%) families, a single potential novel candidate gene for CAKUT was identified per family (red). (F) In 22 of 232 (9%) families, multiple potential novel candidate genes remained per family (green). (G) In ten of 232 (4%) families, we identified mutations in genes known to be causative of monogenic non-CAKUT diseases (brown). (H) In 129 of 232 (56%) families, no causative or candidate mutations were detected (yellow).