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BMC Nephrology
Published in: BMC Nephrology 1/2014

Open Access 01-12-2014 | Case report

Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation

Authors: Rea Valaperta, Vittoria Rizzo, Fortunata Lombardi, Chiara Verdelli, Marco Piccoli, Andrea Ghiroldi, Pasquale Creo, Alessio Colombo, Massimiliano Valisi, Elisabetta Margiotta, Rossella Panella, Elena Costa

Published in: BMC Nephrology | Issue 1/2014

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Abstract

Background

Adenine phosphoribosyltransferase deficiency (APRTD) is an under estimated genetic form of kidney stones and/or kidney failure, characterized by intratubular precipitation of 2,8-dihydroxyadenine crystals (2,8-DHA). Currently, five pathologic allelic variants have been identified as responsible of the complete inactivation of APRT protein.

Case presentation

In this study, we report a novel nonsense mutation of the APRT gene from a 47- year old Italian patient. The mutation, localized in the exon 5, leads to the replacement of a cytosine with a thymine (g.2098C > T), introducing a stop codon at amino acid position 147 (p.Gln147X).
This early termination was deleterious for the enzyme structural and functional integrity, as demonstrated by the structure analysis and the activity assay of the mutant APRT protein.

Conclusion

These data revealed that the p.Gln147X mutation in APRT gene might be a new cause of APRT disease.
Appendix
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Metadata
Title
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation
Authors
Rea Valaperta
Vittoria Rizzo
Fortunata Lombardi
Chiara Verdelli
Marco Piccoli
Andrea Ghiroldi
Pasquale Creo
Alessio Colombo
Massimiliano Valisi
Elisabetta Margiotta
Rossella Panella
Elena Costa
Publication date
01-12-2014
Publisher
BioMed Central
Published in
BMC Nephrology / Issue 1/2014
Electronic ISSN: 1471-2369
DOI
https://doi.org/10.1186/1471-2369-15-102

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