advertisement
Abstract #6299 Published in IGR 3-2
Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene
Michels-Rautenstrauss KG; Mardin CY; Zenker M; Jordan N; Gusek-Schneider GC; Rautenstrauss BWJournal of Glaucoma 2001; 10: 354-357
PURPOSE: To describe three patients with congenital glaucoma homozygous and compound heterozygous for different mutations and benign sequence variants in the cytochrome P 450 1B1 (CYP1B1) gene. METHODS: All patients were examined by slit-lamp biomicroscopy, gonioscopy, measurement of the cornea and optic disc, ultrasound biometry, and automated static threshold perimetry when possible. Direct sequence analysis was performed on DNA extracted from the peripheral blood of the patients and their parents. RESULTS: In patient 1, a newborn boy with buphthalmos and an opaque cornea, a novel homozygous C/T transition in codon 355 (CGA>TGA) led to a predicted non-sense codon Arg355X truncating the protein by 188 amino acids. In patient 2, a 24-year-old man, a compound heterozygous mutation 1410-1422del/1546-1555dup was found. In patient 3, a 34-year-old man, two novel heterozygous mis-sense mutations resulting in an Ala443Gly and a Glu229Lys amino acid exchange and five benign sequence variants were found. CONCLUSION: These results confirm the crucial role of CYP1B1 mutations for congenital glaucoma.
Dr B.W. Rautenstrauss, Institute of Human Genetics, Schwabachanlage 10, D-91054 Erlangen, Germany. berndwr@humgenet.unierlangen.de
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)
