PBX1 and congenital anomaly of kidney and urinary tract: Besides the heterozygous loss or microdeletions involving the PBX1 gene, autosomal dominant (de novo) mutations in PBX1 are known to cause congenital abnormalities of the kidney and urinary tract (CAKUT), with or without extra-renal abnormalities [12], amplification of chromosome 1q23.3 is associated with urothelial carcinoma [13].