Document Type
Report
Department
Biological and Biomedical Sciences
Abstract
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.
Publication (Name of Journal)
Journal of Ayub Medical College
Recommended Citation
Saleheen, D.,
Frossard, P. M.,
Girodon, E.
(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