title: A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndrome.
abstract: WS diagnosis is often delayed since misdiagnosed as autoimmune diabetes. The rarity of the condition and the absence of other diseases at diabetes diagnosis might make extremely challenging the recognition of WS. However the novel compound heterozygosity for the here reported mutations, seems to confer a mild phenotype among the spectrum of WS manifestations.
authors.affiliation: O.U. Pediatrics, S.Orsola-Malpighi Hospital, University of Bologna, via Massarenti 11, 40135 Bologna, Italy. Electronic address: giulio.maltoni2@unibo.it.
authors.forename: Giulio
authors.initials: G
authors.lastname: Maltoni
authors.affiliation: Centro Ricerca Biomedica Applicata - CRBA, S.Orsola-Malpighi Hospital, University of Bologna, via Massarenti 11, 40135 Bologna, Italy; Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale, University of Bologna, via Massarenti 11, 40135 Bologna, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Minardi
authors.affiliation: Centro Ricerca Biomedica Applicata - CRBA, S.Orsola-Malpighi Hospital, University of Bologna, via Massarenti 11, 40135 Bologna, Italy; Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale, University of Bologna, via Massarenti 11, 40135 Bologna, Italy.
authors.forename: Carlotta Pia
authors.initials: CP
authors.lastname: Cristalli
authors.affiliation: O.U. Pediatrics, S.Orsola-Malpighi Hospital, University of Bologna, via Massarenti 11, 40135 Bologna, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Nardi
authors.affiliation: O.U. Pediatrics, S.Orsola-Malpighi Hospital, University of Bologna, via Massarenti 11, 40135 Bologna, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: D'Alberton
authors.affiliation: Centro Ricerca Biomedica Applicata - CRBA, S.Orsola-Malpighi Hospital, University of Bologna, via Massarenti 11, 40135 Bologna, Italy; O.U. Genetica Medica, S.Orsola-Malpighi Hospital, University of Bologna, via Massarenti 11, 40135 Bologna, Italy.
authors.forename: Vilma
authors.initials: V
authors.lastname: Mantovani
authors.affiliation: O.U. Pediatrics, S.Orsola-Malpighi Hospital, University of Bologna, via Massarenti 11, 40135 Bologna, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Zucchini
mesh_terms: D000293:Adolescent; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis; D003951:Diagnostic Errors; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D014929:Wolfram Syndrome / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C114987:wolframin protein
keywords: Monogenic diabetes; Optic atrophy; Wolfram syndrome