N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis.
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.
Van Hoorenbeeck
Kim
K
Department of Pediatrics, University Hospital of Antwerp, Antwerp 2650, Belgium.
Storm
Katrien
K
van den Ende
Jenneke
J
Biervliet
Martine
M
Desager
Kristine N
KN
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
C505032:CFTR protein, human; D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator