Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

Pathogenic copy number variants (CNVs) could explain congenital anomalies of the kidney and urinary tract (CAKUT) in 5.29% of the families in our cohort, increasing the percentage of patients with a genetic cause to 18% (roughly one in five patients) from the 13% identified via whole-exome sequencing. CNV analyses can help CAKUT patients and their families to identify their genetic etiology.