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Published on: April 11, 2018
Cystic fibrosis: a new mutation in the Lebanese population
Chantal Farra1, Rita Medawar, Salman Mroueh
1Genetics Laboratory, Chronic Care Center, Hazmieh, Lebanon. chantal.farra@aub.edu.lb
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.
Conclusion:
The frameshift mutation reported in this article is being described for the first time.
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