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[3120+1kbdel86kb]+[Pn1303k] Genotype In An Emirati Cystic Fibrosis Patient: Indication Of A Founder Mutation In Palestinian Arabs, Danish Saleheen, Philippe M. Frossard, Emmanuelle Girodon

Department of Biological & 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.