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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Molecular and clinical evaluation of primary congenital glaucoma in Kuwait
American Journal of Ophthalmology, Volume 141, No. 3, Year 2006
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Description
• PURPOSE: To report the spectrum of the CYP1B1 mutation in Kuwaiti patients with primary congenital glaucoma (PCG). • DESIGN: Clinical diagnosis of PCG and laboratory based experimental study. • METHODS: Polymerase chain reaction-restriction polymorphism length fragment (PCR-RPLF) and direct sequencing of exon 2 and the coding region of exon 3 of CYP1B1 gene were the methods used for screening 17 PCG patients, their families, and 105 health individuals from the same ethnicity. • RESULTS: Four different mutations were detected in CYP1B1 in 70.6% of the screened patients. The most common one (47%) was homozygote Gly61Glu mutation, previously described in Saudi Arabia, Turkey, and Morocco; all patients were products of consanguineous marriages. The second common mutation was a novel missense (Ala388Thr) mutation found in three patients (17.6%) as compound heterozygote with Arg368His in one patient, and with Gly61Glu in another one while the second mutation in third patient was not detected in the CYP1B1 gene. One patient (5.8%) was homozygote for Cyt280X mutation previously reported in only one Japanese family. In addition to these mutations, a novel Val422Gly polymorphic site was found in three of the PCG patients and in 18 of the 210 tested chromosomes of healthy volunteers. • CONCLUSIONS: The CYP1B1 mutation spectrum of Kuwaiti PCG patients is similar to that detected in the neighboring countries. No clear genotype-phenotype correlation detected in patients showed different types of CYP1B1 mutation. © 2006 by Elsevier Inc. All rights reserved.
Authors & Co-Authors
Alfadhli, Suad
Kuwait, Kuwait City
Kuwait University
Behbehani, Abdulla H.
Kuwait, Kuwait City
Kuwait University
Elshafey, A. E.
Kuwait, Safat
Kuwait Medical Genetics Centre
Abdelmoaty, S. M.A.
Kuwait, Safat
Al-bahar Eye Center
Al-Awadi, Sadika A.
Kuwait, Safat
Kuwait Medical Genetics Centre
Statistics
Citations: 44
Authors: 5
Affiliations: 3
Identifiers
Doi:
10.1016/j.ajo.2005.11.001
ISSN:
00029394
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Locations
Morocco