Mutation spectrum of Egyptian children with cystic fibrosis
Walaa Aboulkasem Shahin1, Dina Ahmed Mehaney2, Mona Mostafa El-Falaki1
1Department of Allergy and Pulmonology, Children's Hospital, Cairo University, Cairo, Egypt.
Insights
This study identifies common and rare cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Egyptian patients. F508del is most frequent, but novel mutations were found, challenging previous assumptions about CF prevalence in Egypt.
Area of Science:
- Medical Genetics
- Pulmonology
- Pediatric Medicine
Background:
- Cystic Fibrosis (CF) was previously considered uncommon in Egypt.
- Understanding CFTR mutation spectrum is crucial for diagnosis and management.
Purpose of the Study:
- To determine the prevalent CFTR mutations in Egyptian CF patients.
- To investigate the genetic basis of CF in Egypt.
Main Methods:
- Cross-sectional study of 60 diagnosed CF patients.
- Sweat chloride testing confirmed diagnosis.
- Reverse hybridization line probe technique screened for 36 common Caucasian CFTR mutations.
Main Results:
- F508del mutation was most common (58%).
- Other detected mutations included 2183AA/G (10%), N1303K (6%), and others (2-4%).
- Novel mutations R1162X and A544E were identified in the Egyptian population.
Conclusions:
- F508del remains the predominant CFTR mutation in Egypt.
- Several rare CFTR mutations are present, including novel ones specific to the Egyptian population.
- No association found between CFTR genotype and clinical presentation.
Objective:
To know the common CFTR mutations in the Egyptian patients with cystic fibrosis as it was previously thought to be uncommon disease in Egypt.
Methods:
This is a cross sectional study of 60 patients diagnosed as cystic fibrosis by sweat chloride testing. They were enrolled from the Allergy and Pulmonology Unit Children's Hospital Cairo University. They were screened for the presence of the frequent 36 mutations in Caucasians by reverse hybridization line probe technique, using INNO-LiPACFTR19 and CFTR17 + Tn kits.
Results:
Most of patients presented with classic manifestations of CF such as variable pulmonary disease and pancreatic insufficiency, and hepatomegaly with or without ascites. The mutations detected were F508 del (58 %), 2183AA/G (10 %), N1303K (6 %), I148T (4 %), W1282X (4 %), G155D (2 %), CFTRdel2-3 (21 KB) (2 %), 3199del6 (2 %), R347P (2 %). Unique to the Egyptian population are these mutations R1162X and A544E (6, 4 %) respectively they were found in our cohort study and were not reported elsewhere in the Arab population till now. There was no association between the initial clinical presentation of CF and the genotypes detected.
Conclusion:
The F508 del is still the most commonly encountered mutation (58 %), however other rare mutations were identified where each ranged from (2 to 10 %).
More Related Videos
Related Concept Videos
01:23Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
01:24Cystic Fibrosis: Management
Sinus disease and chronic...
01:39Mutations