[3120+1kbdel8.6kb]+[p.N1303K] GENOTYPE IN AN EMIRATI CYSTIC FIBROSIS PATIENT: INDICATION OF A FOUNDER MUTATION IN PALESTINIAN ARABS

Danish Saleheen, Philippe M. Frossard, Emmanuelle Girodon

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
Keywords: Cystic Fibrosis, autosomal recessive disorder, Genotype

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