[3120+1kbdel8.6kb]+[p.N1303K] Genotype in an Emirati cystic fibrosis patient: indication of a founder mutation in Palestinian Arabs

Cystic fibrosis [CF] is the most common life-limiting autosomal recessive disorder in Caucasian population. The disease was initially considered to be rare in Middle Eastern countries. 95% of CF in Emirati families is due to two mutations only ' p.S549R[T>G] and p.F508del. We report here the case of a patient referred to CF and Respiratory Clinic at Tawam Hospital for cystic fibrosis transmembrane regulator [CFTR] gene screening to ascertain the diagnosis of CF, who was found to carry a unique genotype, signifying the importance of retrieving ancestral histories of patients with monogenic disorders