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


CONCLUSIONS
Our study suggests the need for searching for this allele in hypertrypsinaemic infants with inconclusive sweat tests.
Padoan
Rita
R
Regional Cystic Fibrosis Centre, A. O. Istituti Clinici di Perfezionamento Milano and Cystic Fibrosis Service, Ospedale dei Bambini, Brescia, Italy. rita.padoan@tiscali.it
Corbetta
Carlo
C
Bassotti
Alessandra
A
Seia
Manuela
M
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D019943:Amino Acid Substitution; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000097:blood / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D016133:Polymerase Chain Reaction; D014357:Trypsin / Q000097:blood*
D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA; D014357:Trypsin