Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico

Journal of Glaucoma
Juan Carlos ZentenoJose Elias Garcia-Ortiz

Abstract

The frequency of primary congenital glaucoma (PCG)-causing CYP1B1 mutations varies importantly among distinct populations, ranging from 20% in Indonesians and Japanese to about 100% among the Saudi Arabians and Slovakian Gypsies. Thus, the molecular characterization of large groups of PCG from different ethnic backgrounds is important to establish the actual CYP1B1 contribution in specific populations. In this work, the molecular analysis of the CYP1B1 gene in a group of Mexican PCG patients is reported. Thirty unrelated Mexican patients fulfilling the clinical criteria for PCG were included. Two cases were familial and with proven consanguinity, originating from distinct regions of the country. Polymerase chain reaction amplification and direct automated sequencing of the CYP1B1 coding region was performed in each participating subject. An identical pathogenic CYP1B1 mutation was demonstrated in 2 unrelated PCG subjects. The mutation consisted of a homozygous G to A transition at nucleotide position 1505 in exon 3, which predicted a substitution of glutamic acid for lysine at residue 387 of the protein (E387K). In the remaining 28 PCG subjects, no deleterious mutations were identified. Both subjects with the E387K mutation sha...Continue Reading

References

Jan 1, 1996·Methods in Enzymology·S E Graham-Lorence, J A Peterson
Oct 12, 2000·Eye·M Sarfarazi, I Stoilov
Nov 14, 2001·Ophthalmology Clinics of North America·A D Beck
Jan 15, 2003·Journal of Medical Genetics·R SitorusM Preising
Sep 26, 2003·Investigative Ophthalmology & Visual Science·Aramati B M ReddyDorairajan Balasubramanian
Nov 19, 2003·Molecular and Cellular Biochemistry·Kunal RayMoulinath Acharya
Jan 27, 2004·Ophthalmology Clinics of North America·Mansoor SarfaraziJohn B Schenkman
Jul 17, 2004·Ophthalmic Genetics·Stacey M CurryBassem A Bejjani
Apr 28, 2006·Investigative Ophthalmology & Visual Science·Wener CellaVital Paulino Costa
Nov 16, 2006·Journal of Glaucoma·Gabriela Chavarria-SoleyBernd Rautenstrauss
Jan 11, 2007·Archives of Ophthalmology·Janey L Wiggs

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Citations

Feb 7, 2009·American Journal of Ophthalmology·Nicole WeisschuhEugen Gramer
Nov 21, 2018·Ophthalmic Genetics·Nancy Hernández-MartínezCristina Villanueva-Mendoza
Apr 4, 2015·Journal of Glaucoma·Laura Morales-FernandezJulian Garcia-Feijoo
Jan 13, 2015·Journal of Glaucoma·Shahin YazdaniElahe Elahi
Jun 9, 2020·Journal of Current Ophthalmology·Ahmad Reza Salehi ChaleshtoriMehrdad Noruzinia
May 31, 2018·Molecular Medicine Reports·Hong-Wei WangFeng Gao
May 1, 2013·Journal of Current Glaucoma Practice·Muneeb FaiqTanuj Dada

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