PKD1 Splice and PKD2 Nonsense Variants Identified in Two Chinese Families With Autosomal Dominant Polycystic Kidney Disease

A splice variant, c.11538-2A>G, in the PKD1 gene and a novel nonsense variant, c.2387T>G [p.(Leu796*)], in the PKD2 gene were identified as the genetic drivers of ADPKD in two Han-Chinese families, respectively. This study may help pave the way to illustrate the underlying mechanism of ADPKD and possibly provide some new clues for specific management and therapeutics.