title: [3120+1kbdel8.6kb]+[p.N1303K] genotype in an Emirati cystic fibrosis patient: indication of a founder mutation in Palestinian Arabs.
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.
authors.affiliation: Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan.
authors.forename: Danish
authors.initials: D
authors.lastname: Saleheen
authors.forename: Philippe M
authors.initials: PM
authors.lastname: Frossard
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Girodon
mesh_terms: D018912:Arabs / Q000235:genetics*; D003550:Cystic Fibrosis / Q000208:ethnology* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D018703:Founder Effect; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D010154:Pakistan; D014479:United Arab Emirates
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator