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.
|Number of pages||3|
|Journal||Acta Paediatrica, International Journal of Paediatrics|
|Publication status||Published - Jul 1 2006|
- Atypical cystic fibrosis
- Newborn screening
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health