Congenital anomalies of the kidneys and urinary tract and TBX18

Posted by & filed under Part 24: KIDNEY.

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

Leave a Reply

You must be logged in to post a comment.