Abstract:
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.
Page(s):
140-139
DOI:
DOI not available
Published:
Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 16, Issue: 2, Year: 2006