Three Novel Mutations in Turkish Children with Cystic Fibrosis: Case Report

ÜLGENALP A., UZUNER N., Olmez D., Babayigit A., BORA E., GİRAY BOZKAYA Ö., ...More

TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, vol.29, no.6, pp.1754-1758, 2009 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 6
  • Publication Date: 2009
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1754-1758
  • Keywords: Cystic fibrosis transmembrane conductance regulator, mutation, CFTR GENE, CHLORIDE CHANNEL, DISEASE, IDENTIFICATION, R347P, DNA
  • Dokuz Eylül University Affiliated: Yes


Cystic fibrosis is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene that results in abnormal viscous mucoid secretions in multiple organs. It mainly occurs in European derived populations. The main clinical features of the disease are pancreatic insufficiency and chronic endobronchial infection. There are currently more than 1500 mutations, of which F508del is the most common. Here we reported three Turkish children who were diagnosed with cystic fibrosis based on characteristic manifestations of the disease and pathological sweat test results. Genetic analysis revealed three novel mutations, p.Leu812X, 3608insG ve p.Ile853Cys in the children, which have not been reported yet in cystic fibrosis patients. In the first case, a missense mutation R347P was identified in a compound heterozygote state with p.Leu812X.