PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies.

Negrisolo S, Benetti E, Centi S, Della Vella M, Ghirardo G, Zanon GF,Murer L, Artifoni L. PAX2 gene mutations in pediatric and young adulttransplant recipients: kidney and urinary tract malformations withoutocular anomalies.Clin Genet 2010. © John Wiley & Sons A/S, 2010Heterozygous humans for PAX2 mutations show autosomal dominantpapillorenal syndrome (PRS), consisting of ocular colobomas, renalhypo/dysplasia and progressive renal failure in childhood. PAX2 mutationshave also been identified in patients with isolated renal hypo/dysplasia.Twenty unrelated children and young adults with kidney and urinary tractmalformations and no ocular abnormalities were retrospectively recruitedfor PAX2 mutational analysis. All patients had undergone renaltransplantation after end-stage renal disease. We identified two newsequence variations: (i) a deletion causing a frameshift (c.69delC) and(ii) a nucleotide substitution determining a splice site mutation (c.410+5G/A) by predictive analysis. Therefore, we suggest PAX2 molecularanalysis to be extended to all patients with congenital malformations ofkidney and urinary tract (CAKUT).