Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.
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Alfadhli S, Behbehani A, Elshafey A, Abdelmoaty S, Al-Awadi S
Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.
Am J Ophthalmol. 2006 Mar;141(3):512-6.
- PubMed ID
- 16490498 [ View in PubMed]
- Abstract
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.