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Cristina Villanueva-Mendoza, Nancy Hernández-Martínez, Miguel Alcántara-Ortigoza, Omar Honerlage-Ceniceros, Ariadna González-Del Angel, Rehotbevely Barrientos-Ríos, Luz González-Huerta; Molecular characterization in Mexican patients with anterior segment dysgenesis including primary congenital glaucoma, aniridia, Peters anomaly and Axenfeld-Rieger anomaly and syndrome. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1351.
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The anterior segment dysgenesis (ASD) are a group of developmental abnormalities that share some common features and have a high prevalence of associated glaucoma. ASD include abnormalities of the cornea, angle and iris such as corectopia, polycoria, iris hypoplasia, corneal leucoma and posterior embryotoxon. The purpose of this study was to evaluate CYP1B1, PAX6 and FOXC1 gene mutations in Mexican patients with primary congenital glaucoma, aniridia, Peters anomaly and Axenfeld-Rieger anomaly and syndrome.
A complete systemic and ophthalmologic evaluation for phenotypic characterization was done. DNA was collected from patients and parents. Mutations were detected by single-strand conformation polymorphism (SSCP) and direct sequencing.
There were 9 patients with aniridia, 8 with primary congenital glaucoma, 3 with Peters anomaly, 6 with Axenfeld-Rieger anomaly or syndrome. Also we had 8 patients with overlapping phenotypes most of them with congenital glaucoma. We found three pathological mutations in PAX6 in patients with aniridia. We didn't find mutations in CYP1B1 in patients with primary congenital glaucoma. At this moment we have not found any pathological mutation in FOXC1.
Heterozygous PAX6 mutations are found in 40-80% in patients with aniridia. We found pathological mutations in 30% of aniridia patients. The frequency of CYP1B1 mutations in primary congenital glaucoma varies among populations, it is probably that in Mexican patients it is a rare cause of the pathology as we didn't find any pathological mutation, including two familiar cases. A complete assessment of FOXC1 gene (and in a near future PITX2 gene) is needed in patients with Axenfeld-Rieger anomaly and syndrome in order to detect the causal mutation. This analysis may help to improve the characterization of this group of abnormalities from a molecular and clinical standpoint.
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