MUTATION OF THE PAX2 GENE IN A FAMILY WITH OPTIC-NERVE COLOBOMAS, RENAL ANOMALIES AND VESICOURETERAL REFLUX

Paired box (PAX) genes play a critical role inhuman development and di sease. The PAX2 gene is expressed in primitive cells of the kidney, ur eter, eye, ear and central nervous system. We have conducted a mutatio nal analysis of PAX2 in a family with optic nerve colobomas, renal hyp oplasia, mild proteinuria and vesicoureteral reflux. We report a singl e nucleotide deletion in exon five, causing a frame-shift of the PAX2 coding region in the octapeptide domain. The phenotype resulting from the PAX2 mutation in this family was very similar to abnormalities tha t have been reported in Krd mutant mice. These data suggest that PAX2 is required for normal kidney and eye development.