Until a recent publication by Vivante et al, in the American Journal of Human genetics (July 2015, available on-line, in press), genes responsible for Congenital anomalies of the kidneys and urinary tract (CAKUT) were elusive. They identified 4 families with dominant negative mutations in TBX18. The mechanism of pathogenicity is thought to be interference with TBX18 transcriptional repression ureter mesenchyme and smooth muscle cells.

Hilary Vernon, MD PhD