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).
Laboratory of Immunopathology and Molecular Biology of Kidney, Department of Pediatrics Salus Pueri, University of Padua, Padua, Italy.
S
S
Negrisolo
E
E
Benetti
S
S
Centi
M
M
Della Vella
G
G
Ghirardo
G F
GF
Zanon
L
L
Murer
L
L
Artifoni
D000293:Adolescent; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005820:Genetic Testing; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000235:genetics / Q000473:pathology; D016030:Kidney Transplantation; D008297:Male; D008969:Molecular Sequence Data; D051762:PAX2 Transcription Factor / Q000235:genetics*; D012189:Retrospective Studies; D016415:Sequence Alignment; D014564:Urogenital Abnormalities / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human