Congenital anomalies of the kidney and urinary tract (CAKUT) are serious birth defects that occur in ~1:1000 pregnancies. Mutations in ~40 different genes are likely to account for these disorders. However, because mutations in unique genes affect a small number of patients with variable penetrance and expressivity, identification of causative genes has been challenging. We identified six novel candidate CAKUT genes in regions of genomic imbalance and showed pronephric phenotypes when gene
more » ... ypes when gene expression was reduced in zebrafish.
doi:10.31038/jmg.2020313 fatcat:5rmo52v24rajzkgme2ywujahga