PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies
Version of Record online: 25 NOV 2010
© 2010 John Wiley & Sons A/S
Volume 80, Issue 6, pages 581–585, December 2011
How to Cite
Negrisolo, S., Benetti, E., Centi, S., Della Vella, M., Ghirardo, G., Zanon, G., Murer, L. and Artifoni, L. (2011), PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies. Clinical Genetics, 80: 581–585. doi: 10.1111/j.1399-0004.2010.01588.x
- Issue online: 24 OCT 2011
- Version of Record online: 25 NOV 2010
- Accepted manuscript online: 29 OCT 2010 06:30PM EST
- Received 31 August 2010, revised and accepted for publication 26 October 2010
- kidney diseases;
- molecular genetics;
- PAX2 transcription factor
Negrisolo S, Benetti E, Centi S, Della Vella M, Ghirardo G, Zanon GF, Murer L, Artifoni L. PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies.
Heterozygous humans for PAX2 mutations show autosomal dominant papillorenal syndrome (PRS), consisting of ocular colobomas, renal hypo/dysplasia and progressive renal failure in childhood. PAX2 mutations have also been identified in patients with isolated renal hypo/dysplasia. Twenty unrelated children and young adults with kidney and urinary tract malformations and no ocular abnormalities were retrospectively recruited for PAX2 mutational analysis. All patients had undergone renal transplantation after end-stage renal disease. We identified two new sequence variations: (i) a deletion causing a frameshift (c.69delC) and (ii) a nucleotide substitution determining a splice site mutation (c.410+5 G/A) by predictive analysis. Therefore, we suggest PAX2 molecular analysis to be extended to all patients with congenital malformations of kidney and urinary tract (CAKUT).