Biological and Biomedical Sciences
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.
Journal of Ayub Medical College
Frossard, P. M.,
(2006). [3120+1kbdel86kb]+[pN1303K] genotype in an Emirati cystic fibrosis patient: indication of a founder mutation in Palestinian Arabs. Journal of Ayub Medical College, 18(3), 69-71.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_bbs/364