Genetic examination of children suffering from cystic fibrosis

Area of Science:

• Medical Genetics
• Pediatric Pulmonology
• Molecular Biology

Background:

• Cystic fibrosis transmembrane conductance regulator (CFTR) protein is crucial for epithelial function in various organs.
• Over 800 mutations and 100 polymorphic variants in the CFTR gene are linked to cystic fibrosis (CF) and CFTR-related diseases.
• Chronic lung disease in children often necessitates investigation into underlying genetic causes like CFTR mutations.

Purpose of the Study:

• To present the genetic CFTR analysis results for children diagnosed with cystic fibrosis at Pediatric hospital Sarajevo.
• To identify specific CFTR gene mutations prevalent in the studied pediatric population.
• To underscore the necessity of establishing CFTR gene analysis services within national healthcare institutes.

Main Methods:

• Genetic analysis of the CFTR gene was performed on 9 pediatric patients with cystic fibrosis.
• DNA samples were analyzed using the Polymerase Chain Reaction (PCR) method, Polyacrylamide Gel Electrophoresis (PAGE), and direct sequencing on ABI PRISM 31.
• Analysis included demographic data such as age and gender distribution of the patients.

Main Results:

• The study analyzed 9 children (4 boys, 5 girls) aged 1 to 12 years.
• The most frequent CFTR mutation identified was Delta F508, present in 77.77% (7 out of 9) of the children.
• One child each carried the G542X mutation and the R1174 mutation.

Conclusions:

• The Delta F508 mutation is the predominant CFTR mutation in the studied cohort of children with cystic fibrosis.
• Genetic analysis confirmed the presence of known CFTR mutations in children with chronic lung disease.
• The findings emphasize the critical need for accessible CFTR gene testing facilities in the country for accurate diagnosis and management of cystic fibrosis.