title: N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis.
abstract: The CFTR genotype N1303K/IVS8-5T can cause very mild cystic fibrosis (CF) and congenital bilateral absence of the vas deferens (CBAVD). We report one family consisting of five affected patients in two generations, presenting minor symptoms of CF at different ages, segregating the CFTR mutations N1303K and IVS8-T5-TG13 in trans. Common features were chronic sinopulmonary symptoms and borderline or slightly elevated sweat chloride values. One patient had CBAVD.
authors.affiliation: Department of Pediatrics, University Hospital of Antwerp, Antwerp 2650, Belgium.
authors.forename: Kim
authors.initials: K
authors.lastname: Van Hoorenbeeck
authors.forename: Katrien
authors.initials: K
authors.lastname: Storm
authors.forename: Jenneke
authors.initials: J
authors.lastname: van den Ende
authors.forename: Martine
authors.initials: M
authors.lastname: Biervliet
authors.forename: Kristine N
authors.initials: KN
authors.lastname: Desager
mesh_terms: D002712:Chlorides / Q000378:metabolism; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D016172:DNA Fingerprinting; D005260:Female; D006801:Humans; D007223:Infant; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D013542:Sweat / Q000737:chemistry
chemical_list: C505032:CFTR protein, human; D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator