In summary, evidence that TSHZ3 is associated with the development of CAKUT, particularly MCDK, hydronephrosis and proximal hydroureter, in humans and mice comes from (i) this study describing rare heterozygous TSHZ3 missense variants in 12 CAKUT patients from 9 of 301 (3%) families, (ii) previous reports of rare TSHZ3 variants in two CAKUT patients [22, 23], (iii) previous reports of a CAKUT phenotype in five patients with heterozygous 19q12-q13.11 deletions encompassing TSHZ3 [35], and (iv) the study of Tshz3 mutant mice [20, 21]. The gene discussed is TSHZ3; the disease is multicystic dysplastic kidney.