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Abstract #14019 Published in IGR 8-3
Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma
Ariani F; Longo I; Frezzotti P; Pescucci C; Mari F; Caporossi A; Frezzotti R; Renieri AGraefe's Archive for Clinical and Experimental Ophthalmology 2006; 244: 1077-1082
PURPOSE: To assess the influence of optineurin in the more common high-tension, primary open-angle glaucoma (POAG). METHODS: Eighteen sporadic cases and 35 probands from 35 familial cases, including three families with one member having normal-tension glaucoma (NTG), were enrolled. Using transgenomic WAVE denaturing high-performance liquid chromatography (DHPLC), all coding portion of the optineurin gene (from exon 4 to exon 16) was analyzed. Samples displaying an altered elution profile were sequenced to confirm and identify sequence variants. Exon 4 containing the previously reported p.E50K (Glu50Lys) recurrent mutation (covering 13% of normotensive cases) was entirely sequenced. RESULTS: We did not detect the mutation p.E50K, and we did not find any other pathogenic mutation. A putative splice-site mutation was detected in one family. Extension of segregation analysis to additional family members and mRNA investigation failed to establish a certain involvement of this mutation with the disease. We detected a number of common polymorphisms, including the previously reported p.M98K (Met98Lys) variant. CONCLUSIONS: In this population, mutations in the optineurin gene are not associated with adult-onset primary POAG.
Dr. F. Ariani, Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)