CFTR Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy

A comprehensive review of cystic fibrosis in Africa and Asia

“…Unlike Algeria, variants c.1521_1523delCTT (47.06–56%) and c.3310G >T (p.lu1104X) (16.18%) were the most frequent in Tunisia, alongside the common variants c.1624G >T, c.3846G>A, c.3909C>G, c.579 + 1G >T, and c.254G>A ( Messaoud et al, 2005 , Boussetta et al, 2018 ). Other variant such as c.2766del8, c.3497T>G (p.Phe1166Cys) and c.3128T>G (p.Leu1043Arg) were exclusively found in a study of patients in Tunisia ( Messaoud et al, 2005 ), while c.1993A >T (p.Thr665Ser) was initially exclusively identified amongst Tunisians but more recently identified in Egyptian patients ( Messaoud et al, 2005 , El-Seedy et al, 2017 ). Two more rare Tunisian specific variants identified were c.57G>A (p.Trp19X), reported in only two cases since 2013, and more recently the c.680T>G (p.Leu227Arg) ( Sediki et al, 2016 ).…”

Cystic Fibrosis in Egyptian Children: Achievements and Future Directions

“…The few studies available suspect the presence of many undiagnosed patients and emphasize suspicion of presence of a higher incidence particularly in view of the high consanguinity rate. Furthermore, the population of the region is characterized by a large family size, high fertility rates, high maternal and paternal age and a high rate of marriage among members of the same tribes (6,7). Case reports from several Arabic countries including Saudi Arabia, Bahrain, Tunisia, Algeria, Lebanon and Egypt have suggested estimates ranging from 1 in 2,560 to 1 in 15,876 individuals (8).…”