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Abstract #8814 Published in IGR 5-1
Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin
Soley GC; Bosse KA; Flikier D; Flikier P; Azofeifa J; Mardin CY; Reis A; Michels-Rautenstrauss KG; Rautenstrauss BWJournal of Glaucoma 2003; 12: 27-30
PURPOSE: To present new molecular genetic data on primary congenital glaucoma from two families, one isolated case and three 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 disc 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 four-year-old child, 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 three affected members showed a homozygous mutation 1,546-1,555dupTCATGCCACC for which nine healthy relatives proved to be heterozygous. The phenotypic expression of these three patients varied widely. CONCLUSION: These results confirm the crucial role of CYP1B1 mutations for congenital glaucoma.
Dr. G.C. Soley, Escuela de Biologia, Universidad de Costa Rica, Costa Rica
Classification:
1.2 Population genetics (Part of: 1 General aspects)
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
