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Abstract #78451 Published in IGR 20-1
Analysis of sequence alterations in patients with primary open-angle glaucoma of Saudi origin
Abu-Amero KK; Sultan T; Al-Obeidan SA; Kondkar AAClinical Ophthalmology 2018; 12: 1413-1416
Cytochrome P450 Family 1 Subfamily B Member 1 (; OMIM# 601771) gene encodes one of the cytochrome P450 family of enzymes. mutations have been associated primarily with primary congenital glaucoma (PCG). Similar studies were reported in juvenile open-angle glaucoma, Rieger's and Peters anomalies. Reports of likely pathogenic sequence alterations in families affected with adult-onset primary open-angle glaucoma (POAG) triggered this investigation. We screened unrelated POAG cases and healthy controls for mutations in using automated Sanger sequencing to identify five known polymorphisms and one mutation (p.G61E) in a heterozygous status. The p.G61E mutation is known to cause PCG in a homozygous or compound heterozygous form, and thus, its presence here in a heterozygous form indicates carrier status. These findings suggest that may have no major role in the pathogenesis of POAG, at least, in the Saudi population. However, further investigations are needed to validate these findings in a larger cohort.
Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia, abuamero@gmail.com.
Full articleClassification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)