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

Authors

  • S Negrisolo,

    1. Laboratory of Immunopathology and Molecular Biology of the Kidney, Department of Pediatrics ‘Salus Pueri’, University of Padua, Padua, Italy
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  • E Benetti,

    1. Pediatric Nephrology, Dialysis and Transplant Unit, Department of Pediatrics ‘Salus Pueri’, University of Padua, Padua, Italy
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  • S Centi,

    1. Laboratory of Immunopathology and Molecular Biology of the Kidney, Department of Pediatrics ‘Salus Pueri’, University of Padua, Padua, Italy
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  • M Della Vella,

    1. Laboratory of Immunopathology and Molecular Biology of the Kidney, Department of Pediatrics ‘Salus Pueri’, University of Padua, Padua, Italy
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  • G Ghirardo,

    1. Pediatric Nephrology, Dialysis and Transplant Unit, Department of Pediatrics ‘Salus Pueri’, University of Padua, Padua, Italy
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  • GF Zanon,

    1. Pediatric Surgery Unit, Department of Pediatrics ‘Salus Pueri’, University of Padua, Padua, Italy
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  • L Murer,

    1. Pediatric Nephrology, Dialysis and Transplant Unit, Department of Pediatrics ‘Salus Pueri’, University of Padua, Padua, Italy
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  • L Artifoni

    Corresponding author
    1. Laboratory of Immunopathology and Molecular Biology of the Kidney, Department of Pediatrics ‘Salus Pueri’, University of Padua, Padua, Italy
      Lina Artifoni, Laboratory of Immunopathology and Molecular Biology of the Kidney, Department of Pediatrics ‘Salus Pueri’, University of Padua, Via Giustiniani 3, 35128 Padua, Italy.
      Tel.: +39 049 821 1478;
      fax: +39 049 821 3503;
      e-mail: lina.artifoni@unipd.it
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Lina Artifoni, Laboratory of Immunopathology and Molecular Biology of the Kidney, Department of Pediatrics ‘Salus Pueri’, University of Padua, Via Giustiniani 3, 35128 Padua, Italy.
Tel.: +39 049 821 1478;
fax: +39 049 821 3503;
e-mail: lina.artifoni@unipd.it

Abstract

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).

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