Phenotype/genotype correlation and cystic fibrosis related diabetes mellitus (Italian Multicenter Study)

M. Cotellessa, L. Minicucci, M. C. Diana, F. Prigione, L. Di Febbraro, R. Gagliardini, A. Manca, F. Battistini, G. Taccetti, G. Magazzu, R. Padoan, G. Pizzamiglio, V. Raia, L. Iapichino, F. Cardella, G. Grinzich, V. Lucidi, G. Tuccio, E. Bignamini, D. SalvatoreR. Lorini

Research output: Contribution to journalArticlepeer-review

Abstract

Background: A genotype/phenotype correlation between early onset cystic fibrosis related diabetes (CFRD) and the N1303K mutation of the CF gene was previously identified in a small series of 28 CFRD patients, out of 313 CF patients. Patients and methods: In order to confirm the observation, data of 141 CFRD patients out of 1,229 CF patients attending 14 Italian CF centers were collected. All patients were older than 10 years and had been genotyped. Results: ΔF508 was the most frequent mutation (147/282 alleles: 52%) and N1303K the second most frequent mutation (18/282 alleles: 6.3%) in CFRD patients, without significant difference as compared with CF patients without DM (52% vs 48.6% and 6.3% vs 5.1%, respectively). W1282X was the third most frequent mutation in CFRD patients, more frequent than in CF patients without DM (5.3% vs 2%; p

Original languageEnglish
Pages (from-to)1087-1093
Number of pages7
JournalJournal of Pediatric Endocrinology and Metabolism
Volume13
Issue number8
Publication statusPublished - 2000

Keywords

  • CFTR mutation
  • Cystic fibrosis
  • Diabetes mellitus
  • W1282X mutation

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health

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