1. PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies.
- Author
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Negrisolo, S, Benetti, E, Centi, S, Della Vella, M, Ghirardo, G, Zanon, GF, Murer, L, and Artifoni, L
- Subjects
GENETIC mutation ,KIDNEY transplantation ,URINARY organs ,TRANSPLANTATION of organs, tissues, etc. in children ,GENETIC disorders in children ,HUMAN abnormality genetics ,GENITOURINARY organ abnormalities ,GENETIC disorder treatment ,TRANSPLANTATION of organs, tissues, etc. - 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). [ABSTRACT FROM AUTHOR]
- Published
- 2011
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