
To assess the influence of optineurin in the more common high-tension, primary open-angle glaucoma (POAG).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.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.In this population, mutations in the optineurin gene are not associated with adult-onset primary POAG.
Adult, Male, DNA Mutational Analysis, Cell Cycle Proteins, Polymerase Chain Reaction, Normotensive glaucoma, OPTN, Transcription Factor TFIIIA, Humans, RNA, Messenger, Chromatography, High Pressure Liquid, Intraocular Pressure, Aged, High-tension glaucoma, Membrane Transport Proteins, Middle Aged, Pedigree, High-tension glaucoma; Normotensive glaucoma; OPTN; Primary open-angle glaucoma; Adult; Aged; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Female; Glaucoma, Open-Angle; Humans; Intraocular Pressure; Male; Middle Aged; Pedigree; Polymerase Chain Reaction; RNA, Messenger; Transcription Factor TFIIIA; Mutation; Ophthalmology; Sensory Systems; Cellular and Molecular Neuroscience, Mutation, Female, High-tension glaucoma; Normotensive glaucoma; OPTN; Primary open-angle glaucoma, Primary open-angle glaucoma, Glaucoma, Open-Angle
Adult, Male, DNA Mutational Analysis, Cell Cycle Proteins, Polymerase Chain Reaction, Normotensive glaucoma, OPTN, Transcription Factor TFIIIA, Humans, RNA, Messenger, Chromatography, High Pressure Liquid, Intraocular Pressure, Aged, High-tension glaucoma, Membrane Transport Proteins, Middle Aged, Pedigree, High-tension glaucoma; Normotensive glaucoma; OPTN; Primary open-angle glaucoma; Adult; Aged; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Female; Glaucoma, Open-Angle; Humans; Intraocular Pressure; Male; Middle Aged; Pedigree; Polymerase Chain Reaction; RNA, Messenger; Transcription Factor TFIIIA; Mutation; Ophthalmology; Sensory Systems; Cellular and Molecular Neuroscience, Mutation, Female, High-tension glaucoma; Normotensive glaucoma; OPTN; Primary open-angle glaucoma, Primary open-angle glaucoma, Glaucoma, Open-Angle
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