title: Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation.
abstract: Adenine phosphoribosyltransferase (APRT) deficiency, a rare inborn error inherited as an autosomic recessive trait, presents with 2,8-dihydroxyadenine (2,8-DHA) crystal nephropathy. We describe clinical, biochemical and molecular findings in a renal transplant recipient with renal failure, 2,8-DHA stones and no measurable erythrocyte APRT activity. Homozygous C > G substitution at -3 in the splicing site of exon 2 (IVS2 -3 c > g) was found in the APRT gene. The patient's asymptomatic brother was heterozygous for such mutation, and his APRT activity was 23% of controls. A splicing alteration leading to incorrect gene transcription and virtually absent APRT activity is seemingly associated with the newly identified mutation.
authors.affiliation: Dipartimento di Biologia Molecolare, Università di Siena, Via Fiorentina 1, Siena , Italy.
authors.forename: Vanna
authors.initials: V
authors.lastname: Micheli
authors.affiliation: Divisione di Nefrologia, Dialisi e Trapianto, Azienda Ospedaliera Universitaria S. Martino, L.go R. Benzi 10, Genova , Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Massarino
authors.affiliation: Dipartimento di Biologia Molecolare, Università di Siena, Via Fiorentina 1, Siena , Italy.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Jacomelli
authors.affiliation: International Association of Medical Genetics (MAGI-onlus), Via delle Grazie 3, Rovereto (TN) , Italy.
authors.forename: Matteo
authors.initials: M
authors.lastname: Bertelli
authors.affiliation: Dipartimento di Biologia Molecolare, Università di Siena, Via Fiorentina 1, Siena , Italy.
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Corradi
authors.affiliation: Dipartimento di Biologia Molecolare, Università di Siena, Via Fiorentina 1, Siena , Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Guerrini
authors.affiliation: Dip. Te. Ris., Università di Genova, V.le BenedettoXV 5, Genova , Italy.
authors.forename: Antonino
authors.initials: A
authors.lastname: Cucchiara
authors.affiliation: Div. di Anatomia Patologica, Azienda Ospedaliera Universitaria S. Martino, L.go R. Benzi 10, Genova , Italy.
authors.forename: Jean Louis
authors.initials: JL
authors.lastname: Ravetti
authors.affiliation: Dip. Te. Ris., Università di Genova, V.le BenedettoXV 5, Genova , Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Negretti
authors.affiliation: Divisione di Nefrologia, Dialisi e Trapianto, Azienda Ospedaliera Universitaria S. Martino, L.go R. Benzi 10, Genova , Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Cannella
keywords: APRT deficiency; gene mutation; nephrolithiasis; renal transplantation