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.
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 PCGpatients, 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 PCGpatients and in 18 of the 210 tested chromosomes of healthy volunteers. CONCLUSIONS: The CYP1B1 mutation spectrum of Kuwaiti PCGpatients is similar to that detected in the neighboring countries. No clear genotype-phenotype correlation detected in patients showed different types of CYP1B1 mutation.
Authors: Khaled K Abu-Amero; Essam A Osman; Ahmed Mousa; Joshua Wheeler; Benjamin Whigham; R Rand Allingham; Michael A Hauser; Saleh A Al-Obeidan Journal: Mol Vis Date: 2011-11-12 Impact factor: 2.367
Authors: Mônica Barbosa de Melo; Anil K Mandal; Ivan M Tavares; Mohammed Hasnat Ali; Meha Kabra; José Paulo Cabral de Vasconcellos; Sirisha Senthil; Juliana M F Sallum; Inderjeet Kaur; Alberto J Betinjane; Christiane R Moura; Jayter S Paula; Karita A Costa; Mansoor Sarfarazi; Mauricio Della Paolera; Simone Finzi; Victor E F Ferraz; Vital P Costa; Rubens Belfort; Subhabrata Chakrabarti Journal: PLoS One Date: 2015-05-15 Impact factor: 3.240
Authors: Osama M Badeeb; Shazia Micheal; Robert K Koenekoop; Anneke I den Hollander; Manal T Hedrawi Journal: BMC Med Genet Date: 2014-09-28 Impact factor: 2.103