title: Mutational spectrum of cystic fibrosis in the Lebanese population.
abstract: BACKGROUND
  Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians; it is however, considered to be rare in the Arab populations. Reports of the cystic fibrosis transmembrane regulator (CFTR) mutations from Arabs, especially from the Lebanese population, are limited.
  
  
  METHODS
  Twenty-two unrelated Lebanese families, with at least one child with CF, were studied. DNA extracts from blood samples of patients and parents were screened for CFTR gene mutations.
  
  
  RESULTS
  Eleven different mutations were identified. Of the 44 alleles studied, the most common mutations were: F508del (34%), N1303K (27%), W1282X (7%), and S4X (7%). Five mutations - not previously reported in the Lebanese population - were identified; these are: S549N, G542X, 2043delG, 4016insG, and R117H-7T.
  
  
  CONCLUSIONS
  The most common CFTR mutations in addition to five mutations not previously described in the Lebanese population were identified. Identification of CFTR mutations in the Lebanese population is important for molecular investigations and genetic counseling.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon. chantal.farra@aub.edu.lb
authors.forename: Chantal
authors.initials: C
authors.lastname: Farra
authors.forename: Rita
authors.initials: R
authors.lastname: Menassa
authors.forename: Johnny
authors.initials: J
authors.lastname: Awwad
authors.forename: Yves
authors.initials: Y
authors.lastname: Morel
authors.forename: Pascale
authors.initials: P
authors.lastname: Salameh
authors.forename: Nadine
authors.initials: N
authors.lastname: Yazbeck
authors.forename: Marianne
authors.initials: M
authors.lastname: Majdalani
authors.forename: Rima
authors.initials: R
authors.lastname: Wakim
authors.forename: Khalid
authors.initials: K
authors.lastname: Yunis
authors.forename: Salman
authors.initials: S
authors.lastname: Mroueh
authors.forename: Faiza
authors.initials: F
authors.lastname: Cabet
mesh_terms: D018912:Arabs / Q000235:genetics* / Q000706:statistics & numerical data*; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000208:ethnology* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007861:Lebanon / Q000453:epidemiology; D008297:Male; D055815:Young Adult
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator