Limitations of this study include the selection bias introduced when using patients from our cohort and those previously published15,27, 28, 29,31, 32, 33, 34, 35, 36, 37, 38 because symptomatic cases, particularly those that are severely affected, are more likely to receive a diagnostic work-up, including genetic testing, leading to the diagnosis of CAKUT with or without a PAX2 variant; whereas carriers of a PAX2 variant with less severe phenotypes may escape detection. Here, PAX2 is linked to congenital anomaly of kidney and urinary tract.