First report of cystic fibrosis mutations in Libyan cystic fibrosis patients

Abstract

Background: There are few data on the molecular basis of Cystic Fibrosis (CF) in North Africa, probably due to under-diagnosis.

Aim: This is the first study of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in the Libyan population.

Subjects and methods: This study analysed the complete coding region and flanking intronic sequences of the CFTR gene in 10 unrelated Libyan CF patients.

Results: This study identified four mutations (F508del, c.1670delC, N1303K and E1104X), with a high frequency of the latter.

Conclusion: Identification of CF mutations facilitates molecular investigation of cystic fibrosis in the Libyan population and helps to provide effective genetic counselling among CF families.

Keywords::

• Cystic fibrosis
• CFTR mutations
• Libyan patients

Declaration of interest: This work was funded by the Ministry of Higher Education, Scientific Research and Technology in Tunisia. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.