Table 2.

Genetic risk factors for CAKUT

Type of Mutation	Genetic Factor	Gene Function/Consequence of Mutation	Associated Defects in Humans
Single gene polymorphism	HNF1β	Transcription factor, autosomal dominant	Multicystic renal dysplasia, renal hypoplasia, renal cysts, and diabetic syndrome (17)
	PAX2	Transcription factor, autosomal dominant	Renal hypoplasia, VUR, renal coloboma, FSGS (15)
	SIX1	Transcription factor, autosomal dominant	Renal hypodysplasia, VUR, branchio-oto-renal syndrome (19)
	SIX5	Transcription factor, autosomal dominant	Renal hypodysplasia, VUR, branchio-oto-renal syndrome (20)
	EYA1	Trascriptional coactivator, autosomal dominant	Renal hypoplasia, branchio-oto-renal syndrome (22)
	SALL1	Transcription factor, autosomal dominant	Townes–Brocks syndrome, renal hypodysplasia (21)
	GATA3	Transcription factor, autosomal dominant	Renal dysplasia, hypoparathyroidism-deafness-renal dysplasia syndrome (23)
	FREM2	Integral membrane protein, autosomal recessive	Renal agenesis, Fraser syndrome (24)
	FRAS1	Extracellular matrix protein, autosomal recessive	Renal agenesis, Fraser syndrome (24)
Copy number variants (29)	1q21	Deletion or duplication of region	Renal hypoplasia/dysplasia/cysts, PUV, UPJO, VUR
	4p16.1-16.3	Deletion or duplication of region	Renal hypoplasia/dysplasia/cysts
	16p11.2	Deletion or duplication of region	Renal hypoplasia/dysplasia/cysts, PUV, UPJO, duplex collecting system, VUR
	16p13.11	Deletion or duplication of region	Renal hypoplasia/dysplasia/cysts, UPJO, duplex collecting system
	17q12	Deletion or duplication of region, contains HNF1β	Renal hypoplasia/dysplasia/cysts, PUV, UPJO, duplex collecting system
	22q11.2	Deletion or duplication of region	DiGeorge syndrome, renal hypoplasia/dysplasia/cysts, UPJO, PUV, dual collecting system, VUR

CAKUT, congenital anomalies of the kidneys and urinary tracts; VUR, vesicoureteric reflux; PUV, posterior urethral valve; UPJO, ureteropelvic junction obstruction.