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

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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number102
JournalBMC Nephrology
Issue number1
Publication statusPublished - Jul 1 2014


  • APRT deficiency
  • Crystalline nephropathy
  • Renal failure

ASJC Scopus subject areas

  • Nephrology
  • Medicine(all)


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