Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations

Advances in clinical diagnostics and molecular tools have improved our understanding of the genetically heterogeneous causes underlying congenital anomalies of kidney and urinary tract (CAKUT). However, despite a sharp incline of CAKUT reports in the literature within the past two decades, there remains a plateau in the genetic diagnostic yield that is disproportionate with the accelerated ability to generate robust genome-wide data. Explanations for this observation include: (1) diverse inheritance patterns with incomplete penetrance and variable expressivity; (2) rarity of single-gene drivers such that large sample sizes are required to meet the burden of proof; and (3) multi-gene interactions that might produce either intra- (e.g.
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: review Source Type: research