However, the patient was compound heterozygous for two causative, previously described mutations (c.202A>G:p.K68E and c.1520_1522del:p.507_508del) within cystic fibrosis transmembrane conductance regulator (CFTR) gene, associated with cystic fibrosis (NM_000492) [28,29]. This evidence concerns the gene CFTR and cystic fibrosis.