Mutational spectrum of cystic fibrosis in the Lebanese population.
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.
Farra
Chantal
C
Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon. chantal.farra@aub.edu.lb
Menassa
Rita
R
Awwad
Johnny
J
Morel
Yves
Y
Salameh
Pascale
P
Yazbeck
Nadine
N
Majdalani
Marianne
M
Wakim
Rima
R
Yunis
Khalid
K
Mroueh
Salman
S
Cabet
Faiza
F
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
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator