Primary Congenital Glaucoma: A Novel Single-Nucleotide Deletion and Varying Phenotypic Expression for the 1546-1555dup Mutation in the GLC3A (CYP1B1) Gene in 2 Families of Different Ethnic Origin
Chavarría Soley, Gabriela
Bosse, Kristin A.
Azofeifa Navas, Jorge
Mardin, Christian Y.
Michels Rautenstrauss, Karin G.
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Purpose: To present new molecular genetic data on primary congenital glaucoma from 2 families, 1 isolated case and 3 familial cases due to mutations in the cytochrome P-450 1B1 (CYP1B1) gene. Methods: All diagnoses were made by slit-lamp biomicroscopy, gonioscopy, cornea and optic disk measurements, ultrasound-biometry, and automated static threshold perimetry where possible. Mutation screening was performed by direct sequence analysis of DNA extracted from peripheral blood of the patients and their relatives. Results: For the isolated case, a child of 4 years, a homozygous nucleotide deletion within a tetrad of cytosines (nt622–625, 622delC) was found leading to a predicted nonsense codon 93 truncating the protein by 450 amino acids. For the familial cases, the 3 affected members showed a homozygous mutation 1546–1555dupTCATGCCACC for which 9 healthy relatives proved to be heterozygous. The phenotypic expression of these 3 patients varied widely. Conclusion: Our results confirm the crucial role of CYP1B1 mutations for congenital glaucoma.
Artículo científico -- Universidad de Costa Rica, Instituto de Investigaciones en Salud. 2003. Este documento es privado debido a limitaciones de derechos de autor.