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Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma

  • Clinical Investigation
  • Published:
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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.

Author information

Authors and Affiliations

  1. Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy

    Francesca Ariani, Ilaria Longo, Chiara Pescucci, Francesca Mari & Alessandra Renieri

  2. Department of Ophthalmology, University of Siena, Siena, Italy

    Paolo Frezzotti & Aldo Caporossi

  3. University of Siena, Siena, Italy

    Renato Frezzotti

  4. Department of Ophthalmology and Neurosurgery, University of Siena, Viale Mazzini 37, 53100, Siena, Italy

    Paolo Frezzotti

Authors
  1. Francesca Ariani
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  2. Ilaria Longo
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  3. Paolo Frezzotti
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  4. Chiara Pescucci
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  5. Francesca Mari
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  6. Aldo Caporossi
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  7. Renato Frezzotti
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  8. Alessandra Renieri
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Corresponding author

Correspondence to Paolo Frezzotti.

Additional information

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

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