A Biallelic Frameshift Mutation in Nephronectin Causes Bilateral Renal Agenesis in Humans

Abstract

A biallelic loss-of-function <i>NPNT</i> mutation causing an autosomal recessive form of BRA in humans was confirmed by the corresponding phenotype of knock-in mice. Our results identify a novel genetic cause of BRA, revealing a new target for genetic diagnosis, prenatal diagnosis, and preimplantation diagnosis for families with BRA.