Cystic fibrosis: a new mutation in the Lebanese population.
BACKGROUND
Cystic fibrosis is the most common autosomal recessive disorder in Caucasians. Little has been reported on its occurrence in Arab and Lebanese populations where mutation distribution seems to differ from that of Europeans. We report on the occurrence of a frameshift mutation 4016insG in two Lebanese Muslim siblings, products of consanguineous parents. This mutation generates a stop codon instead of Arginine-1301 and has never been reported before.


METHODS
Both probands manifested early onset of severe respiratory and pancreatic involvement. DNA analysis was performed by PCR and sequencing for exons 1, 4, 10, 11, 20, 21 of the CFTR gene.


RESULTS
Both probands were found to be homozygous for the 4016insG. Their parents were both heterozygous for the same mutation.


CONCLUSIONS
The frameshift mutation reported in this article is being described for the first time.
Farra
Chantal
C
Genetics Laboratory, Chronic Care Center, Hazmieh, Lebanon. chantal.farra@aub.edu.lb
Medawar
Rita
R
Mroueh
Salman
S
Souaid
Myrna
M
Cabet
Faiza
F
Awwad
Johnny
J
D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007223:Infant; D007861:Lebanon; D008297:Male; D009154:Mutation
D019005:Cystic Fibrosis Transmembrane Conductance Regulator