Contribution of CYP1B1 Mutations and Founder Effect to Primary Congenital Glaucoma in Mexico

• DOI: 10.1097/ijg.0b013e31815678c3
• Publication Date: 2009-03-03T22:34:00Z
• Authors: Juan Carlos Zenteno; Elena Hernandez-M...; Herlinda Mejia-Lopez; Margarita Matías-...; Norma Michel; Celia Elizondo-Ol...; Vincent Korder-Or...; Homero Casab-Rueda; Jose Elias Garcia...
• Keywords: CYP1B1; Founder effect; Coding region

Purpose 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% the Saudi Arabians Slovakian Gypsies. Thus, molecular characterization large groups PCG different ethnic backgrounds is important establish actual contribution specific populations. In this work, analysis gene a group Mexican patients reported. Material Methods Thirty unrelated fulfilling clinical criteria for were included. Two cases familial with proven consanguinity, originating regions country. Polymerase chain reaction amplification direct automated sequencing coding region was performed each participating subject. Results An identical pathogenic mutation demonstrated 2 subjects. consisted homozygous G A transition at nucleotide position 1505 exon 3, which predicted substitution glutamic acid lysine residue 387 protein (E387K). remaining 28 subjects, no deleterious identified. Both subjects E387K shared same haplotype 5 intragenic single polymorphisms, indicating common origin allele. Conclusions are rarely (less than 10%) due mutations. Available data indicate that most non-Brazilian Latin American investigated date not defects. Populations low incidence appropriate candidates identification novel PCG-causing genes.