<i>PBX1</i> haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Abstract

Our results indicate that <i>PBX1</i> haploinsufficiency leads to syndromic CAKUT as supported by the <i>Pbx1</i>-null mice model. Correct PBX1 dosage appears to be critical for normal nephrogenesis and seems important for brain development in humans. CMA should be recommended in cases of fetal renal anomalies to improve genetic counselling and pregnancy management.