Cystic fibrosis (CF) is an autosomal recessive disease of the exocrine glands with multiple serious complications. It was reported that the incidence of CF in
Saudi Arabia is 1 case in every 4243 of the population in 1986. Around 2000 mutations were listed in the CF Mutation Database, among them only the 32
were considered as common mutations. In Saudi Arabia, 1548 delG is the most common mutation among CF cases. The main problems of CF in Saudi Arabia
are the delay in diagnosis, lake of awareness and the economic burden of treatment of CF cases especially with late diagnosis and multiple complications.
However, recently, more attention is paid to CF with more specialized diagnosis facilities and more awareness, however further large scale and longitudinal
studies should be done to determine Saudi CFTR mutation patterns which could be needed during a screening of CF in Saudi Arabia.