Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns

Rita Padoan, Carlo Corbetta, Alessandra Bassotti, Manuela Seia

Research output: Contribution to journalArticlepeer-review

Abstract

In order to increase knowledge of the pathogenic effect of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, we evaluated its presence in 24 hypertrypsinaemic newborns with borderline sweat tests. Among 20 CFTR-identified alterations, the 5T-12TG haplotype was the second most frequent mutation (14.6%) over F508del. Conclusion: Our study suggests the need for searching for this allele in hypertrypsinaemic infants with inconclusive sweat tests.

Original languageEnglish
Pages (from-to)871-873
Number of pages3
JournalActa Paediatrica, International Journal of Paediatrics
Volume95
Issue number7
DOIs
Publication statusPublished - Jul 1 2006

Keywords

  • 5T-12TG
  • Atypical cystic fibrosis
  • CFTR
  • Hypertrypsinaemia
  • Newborn screening

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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