Table 2 Overview of mutational analysis in GDNF/RET signaling components in patients with congenital anomalies of kidney and urinary track.

From: Development of the urogenital system is regulated via the 3′UTR of GDNF

Publications analyzing GDNF/RET/ Identified variantion Cohort & association with kidney Notes
GFRa1 aberrations in humans RET GDNF GFRa1
Skinner et al.63 yes only concurrently with RET variant (1) no 33 stillborn fetuses/aplasia or severe dysplasia A GDNF variant detected in only one fetus with unilateral agenesis and additional mutation in RET
Yang et al.64 yes NA NA 118 Canadian pVUR patients 70% of the patients carry SNP in RET potential phosphorylation site
Zhang et al.62 yes NA NA 136 full-term healthy infants A common RET variant associates with reduced renal size & function
Jeanpierre et al.53 yes NO NA 105 fetuses with bilateral renal defects (agenesis, hypodysplasia, multicystic dysplasia) Analyzed coding, promoter & 3′UTR regions + copy number variations to identify low frequency of potential RET mutations
Chatterjee et al.52 yes yes (2)+ concurrent- ly with RET variant (1) yes (1) 122 unrelated CAKUT patients A GDNF variant detected concurrently with RET variant in one VUR, and alone in one VUR+ ectopia&hydronephro− tis and one VUR + unilateral agenesis&ectopia patient
Kaczmarczyk et al.65 yes NA no 188 full-term healthy infants Confirms the association of common RET variant with reduced renal size & function reported by Zhang et al.62
  1. Targeted and whole genome sequencing approaches have revealed genetic aberrations in GDNF receptor Ret but mutations in Gdnf itself are largely either missing or in combination with Ret variations. Abbreviations: NA; not analyzed, pVUR; primary vesicoureteral reflux, VUR; vesicoureteral reflux.