Identifying novel genes involved in congenital anomalies of the kidney and urinary tract

Abstract

The recent collation of a large patient cohort encompassing the complete CAKUT spectrum, the advent of next generation sequencing (NGS) and progress in bioinformatic developmental gene network modeling have created the opportunity to identify novel genetic causes, characterize complex genotype-phenotype relationships and develop rapid and reliable gene diagnostic tools for CAKUT. The studies on CAKUT genetics will have important implications for affected patients and their families. The elucidation of the complex genetics of disease transmission through studies of exome-wide genetic variability will pave the way towards individualized and more effective genetic counseling of families affected by CAKUT.