Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene.

A detailed description of prenatal ultrasound signs of congenital renal cystic dysplasia (CRCD) is reported. Molecular investigations identified the c.179G>T, p.(Gly60Val) "de novo" variant in a heterozygous state in the RAP1B gene. This is a missense variant not described in the literature. Predictive tools suggest a pathogenic role for this mutation and a likely association with the clinical phenotype.