CAKUT accounts for 40-50% of pediatric end-stage kidney failure worldwide. We have shown that familial forms of disease are underrecognized because many congenital defects are asymptomatic and can only be identified via systematic screening studies in large kindreds. We have identified predisposing loci on chromosomes 1, 10 and 12 and are now applying positional cloning approaches to identify underlying genes. In addition we are utilizing exome sequencing and high density genotyping methodologies to identify rare point mutations and genomic structural variants predisposing to CAKUT.
Structure of some families with urinary tract malformations studied in our lab (from Weng et al. J Am Soc Nephrol. 2009)