Table 1.

Clinical characteristics of the 319 individuals (232 families) with congenital anomalies of the kidneys and urinary tract who were submitted for whole-exome sequencing analysis

Patient CharacteristicsTotal Cohort
nPercentage
Sex
 Women12940
 Men18959
 Unknown1<1
 Total319100
Extrarenal manifestations
 Yes7925
 No24075
 Total319100
Reported consanguinity
 Yes5918
 No26082
 Total319100
Homozygosity on mapping ≥60 Mbp
 Yes5016
 No24075
 Not enough SNPs to generate mapping299
 Total319100
CAKUT phenotype
 Unilateral CAKUTa13041
 Bilateral concordant CAKUTa11135
 Bilateral discordant CAKUTa3210
 Undefined CAKUT phenotype217
 Isolated PUV or epi-/hypospadias113
 PUV with an additional CAKUT phenotypes144
 Total319100
  • SNP, single-nucleotide polymorphism; CAKUT, congenital anomalies of the kidney and urinary tract; PUV, posterior urethral value.

  • a Supplemental Figure 5 and Supplemental Table 5 have a breakdown of the CAKUT pathologies in individuals with unilateral or bilateral pathology.