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

Significance Statement Bilateral renal agenesis (BRA) is a lethal form of congenital anomaly of the kidney and urinary tract, usually resulting in perinatal death or justifying termination of pregnancy. The exact causes of this disease are not clear, although genetic factors are considered important. In this study, we describe a pathological homozygous frameshift variant ( NPNT :NM_001184690:exon8:c.777dup/p.Lys260*) that is responsible for a...