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

Aldo Caporossi, Francesca Ariani, Ilaria Longo, Paolo Frezzotti, Chiara Pescucci, Francesca Mari, Renato Frezzotti, Alessandra Renieri

Risultato della ricerca: Contributo in rivistaArticolo in rivista

10 Citazioni (Scopus)

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. © Springer-Verlag 2006.
Lingua originaleEnglish
pagine (da-a)1077-1082
Numero di pagine6
RivistaGraefe's Archive for Clinical and Experimental Ophthalmology
Volume244
DOI
Stato di pubblicazionePubblicato - 2006

Keywords

  • Adult
  • Aged
  • Cellular and Molecular Neuroscience
  • Chromatography, High Pressure Liquid
  • DNA Mutational Analysis
  • Female
  • Glaucoma, Open-Angle
  • High-tension glaucoma
  • Humans
  • Intraocular Pressure
  • Male
  • Middle Aged
  • Mutation
  • Normotensive glaucoma
  • OPTN
  • Ophthalmology
  • Pedigree
  • Polymerase Chain Reaction
  • Primary open-angle glaucoma
  • RNA, Messenger
  • Sensory Systems
  • Transcription Factor TFIIIA

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