Abstract
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.
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Acknowledgements
We thank the support of SOI, (Società Oftalmologica Italiana), Roma, Italy: R.F and A.R. are recipients of a scientific award for 2002. We also thank the technical support of Francesca Borgia for DHPLC analysis. A special acknowledgment to the participants of grant no. 9906304246, 1999, of Ministero della Istruzione, della Università e della Ricerca, (MIUR), Roma, Italia, who collect this large cohort of patients: Massino G. Bucci, Stefano Gandolfi, Federico Grignolo, Nicola Orzalesi, Antonina Serra, Laura Tomazzoli, Ignazio Zucca . We also thank Ilaria Meloni and Mirella Bruttini who performed the very long and time-consuming mutation analysis over all the OPTN gene and Dionigio A. Prodi who analized in Sardinian population the −12C>AIVS11 change.
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Grants and funds: Scientific award from Società Oftalmologica Italiana, Roma, Italy, 2002 and grant number 9906304246 of Ministero della Istruzione, della Università e della Ricerca (MIUR), Roma, Italy, 1999, to R.F and A.R.
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Ariani, F., Longo, I., Frezzotti, P. et al. Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma. Graefe's Arch Clin Exp Ophthalmo 244, 1077–1082 (2006). https://doi.org/10.1007/s00417-005-0079-3
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DOI: https://doi.org/10.1007/s00417-005-0079-3