3120+1 G-->A: A rare variant in Emirati CF patients
Biological and Biomedical Sciences
Cystic fibrosis is a multi-system genetic disorder caused by mutation in the cystic fibrosis conductance transmembrane regulator (CFTR) gene located on chromosome 7. In United Arab Emirates (UAE), pattern of CF causing gene mutations is different than rest of the Arabs in the region and 95% of CF in Emirati families has been found due to two mutations only - -p.S549R(T>G) and p.F508del. We report the case of a homozygote for a mutation 3120 +1G-->A in the Emirati population detected in a young boy referred to CF and Respiratory Clinic at Tawam Hospital (Al Ain, UAE) for screening CFTR gene.
Journal of the College of Physicians and Surgeons Pakistan
Frossard, P. M.
(2006). 3120+1 G-->A: A rare variant in Emirati CF patients. Journal of the College of Physicians and Surgeons Pakistan, 16(2), 139-140.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_bbs/365