Mutation in Brief

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Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young†‡

  1. Vilma Mantovani1,2,*,
  2. Silvana Salardi3,
  3. Vincenzo Cerreta1,2,
  4. Daniela Bastia1,2,
  5. Marinella Cenci1,
  6. Luca Ragni3,
  7. Stefano Zucchini3,
  8. Raffaele Parente1,
  9. Alessandro Cicognani3

Article first published online: 26 AUG 2003

DOI: 10.1002/humu.9179

Issue

Human Mutation

Human Mutation

Volume 22, Issue 4, page 338, October 2003

Additional Information

How to Cite

Mantovani, V., Salardi, S., Cerreta, V., Bastia, D., Cenci, M., Ragni, L., Zucchini, S., Parente, R. and Cicognani, A. (2003), Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young. Human Mutation, 22: 338. doi: 10.1002/humu.9179

Author Information

  1. 1

    Laboratorio Centralizzato Settore Genetica, Centro Ricerca Biomedica Applicata CRBA, Dipartimento di Pediatria, Policlinico S.Orsola-Malpighi, Bologna, Italy

  2. 2

    Centro Ricerca Biomedica Applicata CRBA, Dipartimento di Pediatria, Policlinico S.Orsola-Malpighi, Bologna, Italy

  3. 3

    Dipartimento di Pediatria, Policlinico S.Orsola-Malpighi, Bologna, Italy

*Laboratorio Centralizzato Settore Genetica, Azienda Policlinico S.Orsola-Malpighi, Via Massarenti 9, 40138 Bologna, Italy

  1. †

    Communicated by Mark H. Paalman

  2. ‡

    Online Citation:Human Mutation, Mutation in Brief #650 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/650.pdf

Publication History

  1. Issue published online: 26 AUG 2003
  2. Article first published online: 26 AUG 2003
  3. Manuscript Accepted: 14 JUL 2003
  4. Manuscript Received: 19 MAR 2003

Funded by

  • Fondazione Cassa di Risparmio in Bologna

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Keywords:

  • MODY2;
  • glucokinase;
  • GCK;
  • mutation detection;
  • diabetes

Abstract

Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of disorders characterized by early onset non-insulin-dependent diabetes mellitus, autosomal dominant inheritance, and primary defect in the function of the beta cells of the pancreas. Mutations in the glucokinase (GCK) gene account for 8%–56% of MODY, with the highest prevalences being found in the southern Europe. While screening for GCK mutations in 28 MODY families of Italian origin, we identified 17 different mutations (corresponding to 61% prevalence), including eight previously undescribed ones. The novel sequence variants included five missense mutations (p.Lys161Asn c.483G>C in exon 4, p.Phe171Leu c.511T>C in exon 5 and p.Thr228Ala c.682A>G, p.Thr228Arg c.683C>G, p.Gly258Cys c.772G>T in exon 7), one nonsense mutation (p.Ser383Ter c.1148C>A in exon 9), the splice site variant c.1253+1G>T in intron 9, and the deletion of 12 nucleotides in exon 10 (p.Ser433underscore;Ile436del c.1298_1309del12). Our study indicates that mutations in the GCK/MODY2 gene are a very common cause of MODY in the Italian population and broadens our knowledge of the naturally occurring GCK mutation repertoire. © 2003 Wiley-Liss, Inc.

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