Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G>A.
We present a case of a 19-year old male with uncommon initial clinical cystic fibrosis (CF) presentation and a rare CFTR genotype, homozygote for c.1393-1G>A mutation (legacy name 1525-1G>A).
Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444A, 11010 Belgrade, Serbia. Electronic address: aleksni@imgge.bg.ac.rs.
Aleksandra
A
Nikolic
University Children's Hospital, Tirsova 10, 11000 Belgrade, Serbia.
Nedeljko
N
Radlovic
Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444A, 11010 Belgrade, Serbia.
Jelena
J
Dinic
University Children's Hospital, Tirsova 10, 11000 Belgrade, Serbia.
Katarina
K
Milosevic
Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444A, 11010 Belgrade, Serbia.
Dragica
D
Radojkovic
D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D012720:Severity of Illness Index; D055815:Young Adult
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator