Article
Impaired CFTR function in mild cystic fibrosis associated with the S977F/T5TG12complex allele in trans with F508del mutation.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Dec 2013
Sorio Claudio, Angiari Chiara, Johansson Jan, Verzè Genny, Ettorre Michele, Buffelli Mario, Castellani Carlo, Assael Baroukh Maurice, Melotti Paola
Abstract excerpt
BACKGROUND: The S977F mutation (c.2930C>T) in the CFTR gene (CFTR/ABCC7) is extremely rare. We describe the case of an adult patient carrying the complex allele S977F/T5TG12 in trans with the F508del mutation. Mild respiratory manifestations arose in adulthood associated with azoospermia, acute pancreatitis, minor hemoptysis and Cl(-) levels ranging from 40 to 42 mEq/L. METHOD: Diagnosis was confirmed by repeated...
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