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

Abstract

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).

• Authors: S Negrisolo, E Benetti, S Centi, M Della Vella, G Ghirardo, G F Zanon, L Murer, L Artifoni
• Journal: Clinical genetics (Clin Genet) Vol. 80 Issue 6 Pg. 581-5 (Dec 2011) ISSN: 1399-0004 [Electronic] Denmark
• PMID: 21108633 (Publication Type: Journal Article)
• Copyright: © 2010 John Wiley & Sons A/S.

Chemical References

• PAX2 Transcription Factor
• PAX2 protein, human

Topics

• Adolescent
• Base Sequence
• Child
• DNA Mutational Analysis
• Eye Abnormalities (genetics)
• Female
• Frameshift Mutation
• Genetic Testing
• Humans
• Kidney (abnormalities, pathology)
• Kidney Failure, Chronic (genetics, pathology)
• Kidney Transplantation
• Male
• Molecular Sequence Data
• PAX2 Transcription Factor (genetics)
• Retrospective Studies
• Sequence Alignment
• Urogenital Abnormalities (genetics, pathology)
• Young Adult